1495:(TGF-β) is a paracrine regulatory protein responsible for embryonic processing, cell growth, apoptosis induction, and enhances collagen production and ECM remodelling. In a non-MFS affected individual, the TGF-β protein is secreted from the cell to stimulate PAI-1 production and Smad2 phosphorylation. The TGF-β protein binds with latency associated protein (LAP) at the N-terminal properties and one of three latent TGF-β binding proteins (LTBP1, 3 or 4) to form a small latent complex (SLC). SLC then binds extracellularly to latent TGF-β binding protein (LTBP) forming a large latent complex (LLC), which includes an active cytokine. The LLC attaches to the microfibrils of Fibrillin-1 via LTBP, allowing the preservation of inactive TGF-β . TGF-β can only be activated through a series of regulated mechanisms; maintaining correct functioning in embryonic development. Mutations in Fibrillin-1 cause elevated levels of TGF-β in the EC space due to LLC being unable to attach to the microfibrils and latent forms not being produced. TGF-β forms a complex with its dimer receptors, to initiate a phosphorylation cascade. This phosphorylation can cause failures such as an aortic aneurysm and prolapsed valves.
1426:
cysteine localisation and disulphide bonding at these loci are critical to structural integrity. Mutations in the FBN1 gene resulting in incorrect bonding at the C5âC6 disulphide bond generally results in MFS of lesser severity. Concentrated mutations of the CaB-EGF domain along the FBN1 polypeptide affects MFS severity phenotype. Localised substitution mutations of the cysteine substitution at C538P on exon 13, C570R on exon 14 or C587Y on exon 15 result in MFS symptoms related to the eyes, specifically ectopia lentis. Microfibrils themselves can support the hemodynamic load in the circulatory systems of invertebrates and lesser vertebrates. Elastin and the development of the ECM system integrated with surrounding VSMC are needed for higher vertebrates to function correctly. Fibrillin-1 is not essential in the stabilisation of the elastic unit but instead in the assembly of the microfibril. Up-regulation of activin A works in conjunction with
Fibrillin-1 and TGF-β signalling molecules to produce a fibroproliferative response. CYR61 induction also functions to support cell adhesion and regulate matrix remodelling and is fundamental in the formation of large vessels and their integrity.
1323:
has been shown that both FBN-1 and FBN-2, along with the other components of elastic fibers, are expressed in the embryonic semilunar valves as early as 4 weeks of gestation. These molecules interact to form the elastic fibers in the ventricularis layer of the semilunar valves. Fibrillin-1 and fibrillin-2 are also crucial for the development of elastic fibers in the aorta. While expression of fibrillin-2 decreases significantly after fetal development, the expression of fibrillin-1 continues into adulthood. This supports the idea that fibrilin-2 dictates the development of early elastic fibers, while fibrillin-1 provides the structural support of mature elastic fibers.
1472:
are coloured red, purple and then white. The skin epidermis is thin and flattened, and the upper protective skin layer is decreased in thickness. This manifestation is characterised histologically by straight, thin collagen bundles arranged in a parallel to the skin and the elastic fibres. Elastic fibres are denser in the upper dermis, and beneath this zone there is a localised absence of the elastic fibres. Between the borders of the striae and skin, there are curled, broken, reticular elastic fibres sometimes present. These symptoms are responsible for cobweblike skin appearances in patients with MFS.
351:
1440:(MFS) is an autosomal dominant disorder that affects the connective tissues of bodily systems such as the eyes, cardiovascular system, skeletal system, skin, pulmonary system and the dura. MFS affects approximately 1 in 5,000 individuals. MFS is not an easily diagnosed pathology with a scoring system called the Ghent nosology table used, rather than a single molecule test. To diagnose MFS individuals that have no previous family history, two criteria must be met. Firstly, two different major organ systems must be affected, and secondly, a third organ system must be involved.
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prophylactic replacement of the aortic root. In MFS affected adults, it is recommended they reduce emotional and physical stress and switch from high impact sports such as martial arts, football, basketball etc to isotonic, low impact exercise such as swimming, biking or jogging where the pulse rate lies approximately at <110 beats per minute. Children should also follow similar guidelines to ensure correct management of MFS.
1540:
1378:
antagonism via systemic administration of TGF-β neutralising antibody (NAb) averted the development of aortic pathologies associated with MDS, more specifically changes in the aortic wall and progressive aortic dilation. Antagonism of TGF-β also further reduced MFS symptoms where it helped muscle regeneration, architecture and strength, pulmonary alveolar septation and mitral valve morphology.
1499:
antagonism via systemic administration of TGF-β neutralising antibody (NAb) averted the development of aortic pathologies associated with MDS, more specifically changes in the aortic wall and progressive aortic dilation. Antagonism of TGF-β also further reduced MFS symptoms where it helped muscle regeneration, architecture and strength, pulmonary alveolar septation and mitral valve morphology.
1390:
growth factor (EGF)-like modules. These domains are homologous to calcium binding epidermal growth factor module (cbEGF-like motifs) and of distinct 8-cysteine modules to make up elastic and non-elastic tissue. These elastic and non-elastic tissues are microfibrillar bundles, heteropolymers of both
Fibrillin-1 and fibrillin-2.
1327:
patientâs body, including the structures of the cardiovascular system. The weakened elastic fibers will result in an impaired durability and distensibility in the heart valves and aorta. This provides the explanation for the aortic aneurysms and prolapsed valves that are commonly associated with Marfan syndrome.
1322:
The FBN-1 gene is involved in a variety of embryonic developmental programs. The microfibrils that are made from fibrillin-1 contribute to both elastic and non-elastic structures. The formation of the elastic fibers in the heart valves and the aorta require the involvement of both FBN-1 and FBN-2. It
1471:
mutations resulting in severe MFS have high expected mortality rates for neonates. Classical MFS symptoms usually become noticeable during puberty or later in life; rarely does it develop in the earlier stages of life. The most common skin manifestation of MFS is striae distensae where bands of skin
1326:
When mutations in the FBN-1 or FBN-2 genes occur, significant deformations can result from the damage to the extracellular matrix. Marfan syndrome is a congenital disease that arises from a mutation in the FBN-1 gene. This leads to the malformation and subsequent weakening of the microfibrils in the
1502:
LLC that fails to be removed from the ECM is more vulnerable to be activated in a protease-dependent or independent manner. MMP2 and MMP9 are select TGF-β activators and ligands and are found in higher levels in the tissues of patients affected with MFS. TGF-β in its complex and free-form can leach
1394:
is a biological process where microfibrils and elastic fibres are self-assembled via organised deposition by several macromolecules. Polymerised fibrillins can be characterised by their âbeads-on-a-stringâ microfibril structure; giving rise to a microfibril lattice via lateral communication of the
1389:
is a gene approximately 200kb and is made up of a large coding sequence divided into 65 exons located on chromosome 15. This gene encodes for
Fibrillin-1 protein. Fibrillin-1 is a large cysteine rich-glycoprotein approximately 350 kDa mainly composed of tandemly repeating domains of epidermal
1498:
Clinical symptoms of MFS such as aortic root dilation, pulmonary emphysema, atrioventricular valve changes and skeletal muscle myopathy are induced by altered TGF-β activation and signalling. Aortic specific symptoms are closely related to excessive TGF-β signalling in the aortic root wall. TGF-β
1377:
Clinical symptoms of MFS such as aortic root dilation, pulmonary emphysema, atrioventricular valve changes and skeletal muscle myopathy are induced by altered TGF-β activation and signalling. Aortic specific symptoms are closely related to excessive TGF-β signalling in the aortic root wall. TGF-β
1483:
gene positioned at chromosome 15q21.1 resulting in a deconstructed form of
Fibrillin-1. Fibrillin-1 is a 350-kDa, 2871-amino acid cystine-rich glycoprotein that is responsible for the amalgamation of elastin into the elastic fibres of the connective tissue in the extracellular matrix (ECM). The
1475:
Management of MFS covers many aspects, and includes lifestyle advice, physiotherapy, medication and surgery. Management of MFS includes counselling on lifestyle to reduce and restrict physical activity, endo prophylaxis, serial imaging the aorta, β-blocker medication for aortic protection and
1425:
A nonsynonymous amino acid change affecting conserved cysteine of the CaB-EGF-like domain encoded by exon 13 of the FBN1 gene can cause MFS to develop. Higher frequency and severity of MFS occurs when there are incorrect substitutions at the C1âC2 or C3âC4 disulphide bonds, therefore, correct
1421:
The mutations of the FBN-1 gene at six chromosomal loci, TAAD1 at 5q13-14, FAA1 at 11q23-24, TAAD2 at 3p24-25, TAAD3 at 15q24-26, TAAD4 at 10q23-24 and MYH11 at 16p12-13 are known to be triggers of MFS. These loci tend to have genes that are involved in vascular function. The MYH11 gene is
1250:. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems,
1511:
Losartan is an angiotensin II type 1 (AT1) receptor blocker known to antagonise TGF-β signalling via inhibiting the expression and activation of TGF-β. Losartan can work independently or with β-blocker therapy to reduce rate of change in the aortic root diameter of MFS pathology.
68:
1484:
fragility of the connective tissue usually results in aortic aneurysms due to the wall having the inability to withstand intraluminal pressure. Defects in fibrillin-1 results in elevated TGF-β levels that directly correlate to MFS.
1858:
Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, et al. (April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene".
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Common variants in FBN1 can have effects on the gene and human phenotypes as well. For example, a common variant in
Peruvian populations (E1297G) can cause a 2.2 cm reduction in height.
3451:
3436:
2640:
Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, et al. (November 2005). "Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome".
1418:
The combination of the four types of mutations results in
Fibrillin-1 being expressed incorrectly. There is no correlation between phenotype and genotype at a molecular level
3466:
3406:
3391:
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Fibrillin-1 mutations are the main mutated protein causing MFS. This mutation usually interferes with the assembly of microfibrils resulting in a dominant-negative mechanism
1451:
not inherited from either parent) and results in the individual phenotypically displaying long and thin limbs and extremities, a curved spine usually resulting in thoracic
1932:
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2791:"Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1"
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Missense mutations caused by single base substitutions such as cysteine or those associated with calcium binding in
Fibrillin-1.
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3341:
1663:
3370:: NMR STUDY OF THE TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN-LIKE DOMAIN (TB MODULE/8-CYS DOMAIN), NMR, 21 STRUCTURES
2535:
Barrett PM, Topol EJ (January 2013). "The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease".
65:
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Mutations within the exonic splice site allowing for insertions or deletions due to creations of cryptic splice sites.
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1547:
The 2018 version of this article was updated by an external expert under a dual publication model. The corresponding
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responsible for the smooth muscle myosin heavy chain and ACTA2 at TAAD4 loci encodes for smooth muscle alpha-actin.
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MFS has a large hereditary component, with 80% of cases being inherited. The remaining 20% of MFS cases occur from
1360:
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3148:
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Intronic splice site base changes leading to alternative splicing and in-frame exon skipping or deletion.
3460:: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY.
3107:"Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies"
363:
262:
3445:: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY
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3415:: NMR Study of the Fibrillin-1 cbEGF12-13 Pair of Ca2+ Binding Epidermal Growth Factor-like Domains
3400:: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, 22 STRUCTURES
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called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme
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2322:
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that serves as a structural component of 10â12 nm calcium-binding
335:
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Premature terminations caused by nonsense mutations or frameshifts.
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1808:
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Knowledge articles with corresponding articles published in Gene
3219:
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2839:"The role of transforming growth factor-beta in Marfan syndrome"
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3298:
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2401:
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818:
regulation of cellular response to growth factor stimulus
2929:
2639:
1811:"Asprosin, a Fasting-Induced Glucogenic Protein Hormone"
1759:
1718:
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cellular response to insulin-like growth factor stimulus
426:
2932:"Fibrillin-1 regulates the bioavailability of TGFbeta1"
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1896:
3147:
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2260:
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2256:
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2246:
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extracellular matrix constituent conferring elasticity
2577:
1297:
The sequence of fibrillin-1 includes 47 six-cysteine
591:
2685:"The revised Ghent nosology for the Marfan syndrome"
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1285:
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1395:individual polymers and structural components.
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2635:
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1664:GRCm38: Ensembl release 89: ENSMUSG00000027204
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2140:
2138:
2136:
2134:
2132:
1714:
1712:
2628:
2523:
2265:von Kodolitsch Y, Robinson PN (June 2007).
1643:GRCh38: Ensembl release 89: ENSG00000166147
1301:, 7 eight-cysteine domains homologous with
848:sequestering of BMP in extracellular matrix
666:extracellular matrix structural constituent
3508:
3494:
3342:
3328:
2871:
2823:
2733:
2676:
2355:
1753:
1345:Marfanoidâprogeroidâlipodystrophy syndrome
3202:
3122:
3087:
3052:
3001:
2955:
2906:
2854:
2806:
2765:
2708:
2611:
2506:
2496:
2455:
2379:
2338:
2290:
2186:
2129:
2112:
1995:
1834:
1785:
1736:
1709:
1595:
873:regulation of signaling receptor activity
3069:
1330:
747:collagen-containing extracellular matrix
3027:Robinson PN, Godfrey M (January 2000).
868:post-translational protein modification
828:activation of protein kinase A activity
14:
3911:
3515:
3489:
3323:
2880:
1281:to give fibrillin-1, a member of the
378:
339:
334:
277:
236:
231:
1861:European Journal of Medical Genetics
1533:
1273:that encode a 2,871-amino-acid long
2795:The Journal of Biological Chemistry
2485:The Journal of Biological Chemistry
2072:Online Mendelian Inheritance in Man
1899:International Journal of Cardiology
1479:MFS is caused by a mutation in the
24:
3259:Antioxidants & Redox Signaling
3234:10.1097/01.hco.0000162398.21972.cd
3204:10.1161/01.CIR.0000155243.70456.F4
2976:
2887:American Journal of Human Genetics
1432:
838:cell adhesion mediated by integrin
722:intracellular anatomical structure
661:protein-containing complex binding
25:
3940:
3805:Dense irregular connective tissue
3287:
2179:10.1161/CIRCULATIONAHA.108.841981
1228:that in humans is encoded by the
798:extracellular matrix organization
3465:
3450:
3435:
3420:
3405:
3390:
3375:
3360:
1538:
1487:
1318:Fetal cardiovascular development
1269:is a 230-kb gene with 65 coding
793:extracellular matrix disassembly
783:post-embryonic eye morphogenesis
607:
600:
362:
355:
349:
326:
261:
254:
248:
223:
40:
3822:Dense regular connective tissue
3349:
2571:
2340:10.1001/jamadermatol.2013.10036
2080:
2065:
2047:
2033:10.1016/j.cpcardiol.2007.10.001
2012:
1925:
1493:Transforming growth factor beta
1372:adolescent idiopathic scoliosis
1303:latent TGF-beta binding protein
2021:Current Problems in Cardiology
1851:
1802:
1691:
1673:
618:More reference expression data
580:More reference expression data
13:
1:
3222:Current Opinion in Cardiology
3089:10.1016/s0167-4889(00)00085-9
3070:Handford PA (December 2000).
1946:10.1016/s0945-053x(02)00100-2
1624:
347:
246:
3919:Genes on human chromosome 15
2984:Hayward C, Brock DJ (1998).
2549:10.1136/heartjnl-2012-301840
1911:10.1016/j.ijcard.2015.03.423
1381:
1361:ShprintzenâGoldberg syndrome
1292:
7:
3033:Journal of Medical Genetics
2936:The Journal of Cell Biology
2746:The Journal of Cell Biology
2689:Journal of Medical Genetics
1766:Journal of Medical Genetics
1570:. Gene Wiki Review Series.
1515:
1506:
1312:
808:camera-type eye development
778:embryonic eye morphogenesis
768:skeletal system development
742:endoplasmic reticulum lumen
480:stromal cell of endometrium
10:
3945:
2381:10.1177/002215549704500805
2076:FIBRILLIN 1; FBN1 - 134797
1873:10.1016/j.ejmg.2014.02.012
1827:10.1016/j.cell.2016.02.063
1580:10.1016/J.GENE.2016.07.033
823:protein kinase A signaling
3874:
3851:
3795:
3760:
3751:
3744:
3662:
3644:
3633:
3606:
3565:
3556:
3549:
3523:
3355:
2881:Dietz HC (October 2007).
2604:10.1038/s41586-020-2302-0
1699:"Mouse PubMed Reference:"
1681:"Human PubMed Reference:"
1551:article was published in
1349:WeillâMarchesani syndrome
1339:gene are associated with
1256:Weill-Marchesani syndrome
1208:
1203:
1199:
1192:
1176:
1170:Chr 2: 125.14 â 125.35 Mb
1157:
1142:
1138:
1121:
1117:
1110:
1095:
1091:
1074:
1070:
1063:
1050:
1046:
1031:
1027:
1018:
1005:
1001:
986:
982:
973:
960:
956:
941:
937:
928:
913:
906:
902:
886:
833:glucose metabolic process
691:identical protein binding
636:
632:
615:
599:
590:
577:
526:
517:
464:
455:
425:
417:
413:
396:
383:
346:
325:
316:
312:
295:
282:
245:
222:
213:
209:
164:
161:
151:
144:
139:
84:
79:
62:
57:
52:
48:
39:
34:
2093:Human Molecular Genetics
1527:
1163:Chr 15: 48.41 â 48.65 Mb
2701:10.1136/jmg.2009.072785
2498:10.1074/jbc.M110.130021
2283:10.1136/hrt.2006.098798
1401:Mutations can include:
1261:
813:metanephros development
554:internal carotid artery
530:external carotid artery
27:Protein found in humans
3271:10.1089/ars.2006.8.338
2808:10.1074/jbc.M208266200
2758:10.1083/jcb.103.6.2499
2436:Molecular Syndromology
1738:10.1006/geno.1998.5697
1549:academic peer reviewed
1366:Mutations in FBN1 and
3312:(Fibrillin-1) at the
2948:10.1083/jcb.200608167
1347:, autosomal dominant
1331:Clinical significance
717:extracellular exosome
239:Chromosome 15 (human)
3162:10.1002/ajmg.a.20605
2856:10.5603/CJ.2013.0066
2752:(6 Pt 1): 2499â509.
2654:10.1002/ajmg.a.30981
1557:and can be cited as:
1463:(sunken chest), and
1457:hyperflexible joints
1370:are associated with
1241:extracellular matrix
727:extracellular region
707:extracellular matrix
380:2 F1|2 61.38 cM
341:Chromosome 2 (mouse)
80:List of PDB id codes
53:Available structures
2596:2020Natur.582..234A
1778:10.1136/jmg.40.1.34
878:signal transduction
843:glucose homeostasis
737:extracellular space
651:calcium ion binding
3124:10.1002/humu.10113
3045:10.1136/jmg.37.1.9
2843:Cardiology Journal
2105:10.1093/hmg/ddu224
2055:"FBN1 fibrillin 1"
1988:10.1242/dev.093500
1465:retinal detachment
1449:germline mutations
1008:ENSMUSG00000027204
773:kidney development
756:Biological process
700:Cellular component
644:Molecular function
3906:
3905:
3902:
3901:
3847:
3846:
3740:
3739:
3736:
3735:
3629:
3628:
3517:Connective tissue
3483:
3482:
2801:(14): 12199â206.
2590:(7811): 234â239.
2448:10.1159/000358846
1622:
1621:
1335:Mutations in the
1254:or in some cases
1239:. It is a large,
1219:
1218:
1215:
1214:
1188:
1187:
1153:
1152:
1132:
1131:
1106:
1105:
1085:
1084:
1059:
1058:
1040:
1039:
1014:
1013:
995:
994:
969:
968:
950:
949:
898:
897:
803:heart development
712:basement membrane
628:
627:
624:
623:
586:
585:
573:
572:
511:
510:
492:periodontal fiber
409:
408:
308:
307:
135:
134:
131:
130:
63:Ortholog search:
16:(Redirected from
3936:
3758:
3757:
3749:
3748:
3677:Reticular fibers
3646:Ground substance
3642:
3641:
3563:
3562:
3554:
3553:
3510:
3503:
3496:
3487:
3486:
3469:
3454:
3439:
3424:
3409:
3394:
3379:
3364:
3344:
3337:
3330:
3321:
3320:
3282:
3253:
3216:
3206:
3181:
3144:
3126:
3101:
3091:
3066:
3056:
3023:
3005:
2970:
2969:
2959:
2927:
2921:
2920:
2910:
2878:
2869:
2868:
2858:
2834:
2821:
2820:
2810:
2786:
2780:
2779:
2769:
2737:
2731:
2730:
2712:
2680:
2674:
2673:
2637:
2626:
2625:
2615:
2575:
2569:
2568:
2532:
2521:
2520:
2510:
2500:
2491:(32): 24943â55.
2476:
2470:
2469:
2459:
2427:
2394:
2393:
2383:
2359:
2353:
2352:
2342:
2327:JAMA Dermatology
2318:
2305:
2304:
2294:
2262:
2239:
2238:
2218:
2201:
2200:
2190:
2158:
2127:
2126:
2116:
2084:
2078:
2069:
2063:
2062:
2051:
2045:
2044:
2016:
2010:
2009:
1999:
1967:
1958:
1957:
1929:
1923:
1922:
1894:
1885:
1884:
1855:
1849:
1848:
1838:
1806:
1800:
1799:
1789:
1757:
1751:
1750:
1740:
1716:
1707:
1706:
1695:
1689:
1688:
1677:
1671:
1661:
1650:
1640:
1617:
1599:
1542:
1534:
1461:pectus excavatum
1343:and its variant
1299:EGF-like domains
1279:furin convertase
1201:
1200:
1172:
1165:
1148:
1136:
1135:
1127:
1115:
1114:
1111:RefSeq (protein)
1101:
1089:
1088:
1080:
1068:
1067:
1044:
1043:
1025:
1024:
999:
998:
980:
979:
954:
953:
935:
934:
904:
903:
681:hormone activity
671:integrin binding
634:
633:
620:
611:
604:
597:
596:
582:
566:efferent ductule
542:semi-lunar valve
522:
520:Top expressed in
515:
514:
460:
458:Top expressed in
453:
452:
432:
431:
415:
414:
405:
392:
381:
366:
359:
353:
342:
330:
314:
313:
304:
291:
280:
265:
258:
252:
241:
227:
211:
210:
205:
203:FBN1 - orthologs
156:
149:
126:
77:
76:
71:
50:
49:
44:
32:
31:
21:
3944:
3943:
3939:
3938:
3937:
3935:
3934:
3933:
3909:
3908:
3907:
3898:
3870:
3843:
3791:
3732:
3672:Collagen fibers
3658:
3636:
3625:
3608:Wandering cells
3602:
3545:
3519:
3514:
3484:
3479:
3476:
3470:
3461:
3455:
3446:
3440:
3431:
3425:
3416:
3410:
3401:
3395:
3386:
3380:
3371:
3365:
3351:
3348:
3290:
3285:
3265:(3â4): 338â46.
2979:
2977:Further reading
2974:
2973:
2928:
2924:
2879:
2872:
2835:
2824:
2787:
2783:
2738:
2734:
2710:1854/LU-1013955
2681:
2677:
2638:
2629:
2576:
2572:
2533:
2524:
2477:
2473:
2428:
2397:
2360:
2356:
2319:
2308:
2263:
2242:
2219:
2204:
2159:
2130:
2099:(19): 5271â82.
2085:
2081:
2070:
2066:
2053:
2052:
2048:
2017:
2013:
1982:(11): 2345â53.
1968:
1961:
1930:
1926:
1895:
1888:
1856:
1852:
1807:
1803:
1758:
1754:
1717:
1710:
1697:
1696:
1692:
1679:
1678:
1674:
1662:
1653:
1641:
1632:
1627:
1618:
1559:
1558:
1543:
1530:
1518:
1509:
1490:
1447:mutations (new
1438:Marfan syndrome
1435:
1433:Marfan syndrome
1384:
1341:Marfan syndrome
1333:
1320:
1315:
1295:
1264:
1252:Marfan syndrome
1210:View/Edit Mouse
1205:View/Edit Human
1168:
1161:
1158:Location (UCSC)
1144:
1123:
1097:
1076:
989:ENSG00000166147
882:
751:
695:
686:heparin binding
676:protein binding
616:
606:
605:
578:
569:
564:
560:
556:
552:
548:
544:
540:
536:
534:ascending aorta
532:
518:
507:
502:
500:parietal pleura
498:
494:
490:
486:
482:
478:
474:
470:
456:
400:
387:
379:
369:
368:
367:
360:
340:
317:Gene location (
299:
286:
278:
268:
267:
266:
259:
237:
214:Gene location (
165:
152:
145:
86:
64:
28:
23:
22:
15:
12:
11:
5:
3942:
3932:
3931:
3926:
3921:
3904:
3903:
3900:
3899:
3897:
3896:
3891:
3886:
3880:
3878:
3872:
3871:
3869:
3868:
3863:
3857:
3855:
3849:
3848:
3845:
3844:
3842:
3841:
3840:
3839:
3834:
3829:
3819:
3818:
3817:
3812:
3801:
3799:
3793:
3792:
3790:
3789:
3788:
3787:
3782:
3772:
3766:
3764:
3755:
3746:
3742:
3741:
3738:
3737:
3734:
3733:
3731:
3730:
3729:
3728:
3723:
3718:
3717:
3716:
3711:
3701:
3696:
3689:Elastic fibers
3686:
3685:
3684:
3674:
3668:
3666:
3660:
3659:
3657:
3656:
3650:
3648:
3639:
3635:Extracellular
3631:
3630:
3627:
3626:
3624:
3623:
3618:
3612:
3610:
3604:
3603:
3601:
3600:
3595:
3590:
3585:
3583:Reticular cell
3580:
3575:
3569:
3567:
3560:
3551:
3547:
3546:
3544:
3543:
3538:
3533:
3527:
3525:
3521:
3520:
3513:
3512:
3505:
3498:
3490:
3481:
3480:
3478:
3477:
3471:
3464:
3462:
3456:
3449:
3447:
3441:
3434:
3432:
3426:
3419:
3417:
3411:
3404:
3402:
3396:
3389:
3387:
3381:
3374:
3372:
3366:
3359:
3356:
3353:
3352:
3347:
3346:
3339:
3332:
3324:
3318:
3317:
3296:
3289:
3288:External links
3286:
3284:
3283:
3254:
3228:(3): 194â200.
3217:
3197:(11): e150-7.
3182:
3145:
3111:Human Mutation
3102:
3082:(2â3): 84â90.
3067:
3024:
2990:Human Mutation
2980:
2978:
2975:
2972:
2971:
2922:
2899:10.1086/521409
2870:
2822:
2781:
2732:
2675:
2627:
2570:
2522:
2471:
2395:
2374:(8): 1069â82.
2354:
2306:
2240:
2202:
2128:
2079:
2064:
2046:
2011:
1959:
1934:Matrix Biology
1924:
1886:
1850:
1801:
1752:
1708:
1690:
1672:
1651:
1629:
1628:
1626:
1623:
1620:
1619:
1574:(1): 279â291.
1546:
1544:
1537:
1529:
1526:
1525:
1524:
1517:
1514:
1508:
1505:
1489:
1486:
1434:
1431:
1416:
1415:
1412:
1409:
1406:
1383:
1380:
1357:MASS phenotype
1353:ectopia lentis
1332:
1329:
1319:
1316:
1314:
1311:
1309:-rich region.
1294:
1291:
1263:
1260:
1217:
1216:
1213:
1212:
1207:
1197:
1196:
1190:
1189:
1186:
1185:
1183:
1181:
1174:
1173:
1166:
1159:
1155:
1154:
1151:
1150:
1140:
1139:
1133:
1130:
1129:
1119:
1118:
1112:
1108:
1107:
1104:
1103:
1093:
1092:
1086:
1083:
1082:
1072:
1071:
1065:
1061:
1060:
1057:
1056:
1048:
1047:
1041:
1038:
1037:
1029:
1028:
1022:
1016:
1015:
1012:
1011:
1003:
1002:
996:
993:
992:
984:
983:
977:
971:
970:
967:
966:
958:
957:
951:
948:
947:
939:
938:
932:
926:
925:
920:
915:
911:
910:
900:
899:
896:
895:
884:
883:
881:
880:
875:
870:
865:
860:
855:
850:
845:
840:
835:
830:
825:
820:
815:
810:
805:
800:
795:
790:
785:
780:
775:
770:
765:
759:
757:
753:
752:
750:
749:
744:
739:
734:
729:
724:
719:
714:
709:
703:
701:
697:
696:
694:
693:
688:
683:
678:
673:
668:
663:
658:
653:
647:
645:
641:
640:
630:
629:
626:
625:
622:
621:
613:
612:
594:
588:
587:
584:
583:
575:
574:
571:
570:
568:
567:
563:
559:
555:
551:
547:
543:
539:
535:
531:
527:
524:
523:
512:
509:
508:
506:
505:
504:saphenous vein
501:
497:
493:
489:
485:
481:
477:
473:
469:
468:synovial joint
465:
462:
461:
449:
448:
440:
429:
423:
422:
419:RNA expression
411:
410:
407:
406:
398:
394:
393:
385:
382:
377:
371:
370:
361:
354:
348:
344:
343:
338:
332:
331:
323:
322:
310:
309:
306:
305:
297:
293:
292:
284:
281:
276:
270:
269:
260:
253:
247:
243:
242:
235:
229:
228:
220:
219:
207:
206:
163:
159:
158:
150:
142:
141:
137:
136:
133:
132:
129:
128:
82:
81:
73:
72:
61:
55:
54:
46:
45:
37:
36:
26:
9:
6:
4:
3:
2:
3941:
3930:
3927:
3925:
3922:
3920:
3917:
3916:
3914:
3895:
3892:
3890:
3887:
3885:
3882:
3881:
3879:
3877:
3873:
3867:
3864:
3862:
3859:
3858:
3856:
3854:
3850:
3838:
3835:
3833:
3830:
3828:
3825:
3824:
3823:
3820:
3816:
3813:
3811:
3808:
3807:
3806:
3803:
3802:
3800:
3798:
3794:
3786:
3783:
3781:
3778:
3777:
3776:
3773:
3771:
3768:
3767:
3765:
3763:
3759:
3756:
3754:
3750:
3747:
3743:
3727:
3724:
3722:
3719:
3715:
3712:
3710:
3707:
3706:
3705:
3702:
3700:
3697:
3695:
3692:
3691:
3690:
3687:
3683:
3680:
3679:
3678:
3675:
3673:
3670:
3669:
3667:
3665:
3661:
3655:
3652:
3651:
3649:
3647:
3643:
3640:
3638:
3632:
3622:
3619:
3617:
3614:
3613:
3611:
3609:
3605:
3599:
3596:
3594:
3591:
3589:
3586:
3584:
3581:
3579:
3576:
3574:
3571:
3570:
3568:
3564:
3561:
3559:
3555:
3552:
3548:
3542:
3539:
3537:
3534:
3532:
3529:
3528:
3526:
3522:
3518:
3511:
3506:
3504:
3499:
3497:
3492:
3491:
3488:
3474:
3468:
3463:
3459:
3453:
3448:
3444:
3438:
3433:
3429:
3423:
3418:
3414:
3408:
3403:
3399:
3393:
3388:
3384:
3378:
3373:
3369:
3363:
3358:
3357:
3354:
3345:
3340:
3338:
3333:
3331:
3326:
3325:
3322:
3315:
3311:
3310:
3305:
3301:
3297:
3295:
3292:
3291:
3280:
3276:
3272:
3268:
3264:
3260:
3255:
3251:
3247:
3243:
3239:
3235:
3231:
3227:
3223:
3218:
3214:
3210:
3205:
3200:
3196:
3192:
3188:
3183:
3179:
3175:
3171:
3167:
3163:
3159:
3155:
3151:
3146:
3142:
3138:
3134:
3130:
3125:
3120:
3117:(3): 153â61.
3116:
3112:
3108:
3103:
3099:
3095:
3090:
3085:
3081:
3077:
3073:
3068:
3064:
3060:
3055:
3050:
3046:
3042:
3038:
3034:
3030:
3025:
3021:
3017:
3013:
3009:
3004:
2999:
2996:(6): 415â23.
2995:
2991:
2987:
2982:
2981:
2967:
2963:
2958:
2953:
2949:
2945:
2942:(3): 355â67.
2941:
2937:
2933:
2926:
2918:
2914:
2909:
2904:
2900:
2896:
2892:
2888:
2884:
2877:
2875:
2866:
2862:
2857:
2852:
2849:(3): 227â34.
2848:
2844:
2840:
2833:
2831:
2829:
2827:
2818:
2814:
2809:
2804:
2800:
2796:
2792:
2785:
2777:
2773:
2768:
2763:
2759:
2755:
2751:
2747:
2743:
2736:
2728:
2724:
2720:
2716:
2711:
2706:
2702:
2698:
2695:(7): 476â85.
2694:
2690:
2686:
2679:
2671:
2667:
2663:
2659:
2655:
2651:
2647:
2643:
2636:
2634:
2632:
2623:
2619:
2614:
2609:
2605:
2601:
2597:
2593:
2589:
2585:
2581:
2574:
2566:
2562:
2558:
2554:
2550:
2546:
2542:
2538:
2531:
2529:
2527:
2518:
2514:
2509:
2504:
2499:
2494:
2490:
2486:
2482:
2475:
2467:
2463:
2458:
2453:
2449:
2445:
2442:(5): 236â40.
2441:
2437:
2433:
2426:
2424:
2422:
2420:
2418:
2416:
2414:
2412:
2410:
2408:
2406:
2404:
2402:
2400:
2391:
2387:
2382:
2377:
2373:
2369:
2365:
2358:
2350:
2346:
2341:
2336:
2332:
2328:
2324:
2317:
2315:
2313:
2311:
2302:
2298:
2293:
2288:
2284:
2280:
2277:(6): 755â60.
2276:
2272:
2268:
2261:
2259:
2257:
2255:
2253:
2251:
2249:
2247:
2245:
2236:
2232:
2229:(2): 97â100.
2228:
2224:
2217:
2215:
2213:
2211:
2209:
2207:
2198:
2194:
2189:
2184:
2180:
2176:
2173:(6): 526â32.
2172:
2168:
2164:
2157:
2155:
2153:
2151:
2149:
2147:
2145:
2143:
2141:
2139:
2137:
2135:
2133:
2124:
2120:
2115:
2110:
2106:
2102:
2098:
2094:
2090:
2083:
2077:
2073:
2068:
2060:
2056:
2050:
2042:
2038:
2034:
2030:
2026:
2022:
2015:
2007:
2003:
1998:
1993:
1989:
1985:
1981:
1977:
1973:
1966:
1964:
1955:
1951:
1947:
1943:
1940:(8): 637â46.
1939:
1935:
1928:
1920:
1916:
1912:
1908:
1904:
1900:
1893:
1891:
1882:
1878:
1874:
1870:
1866:
1862:
1854:
1846:
1842:
1837:
1832:
1828:
1824:
1821:(3): 566â79.
1820:
1816:
1812:
1805:
1797:
1793:
1788:
1783:
1779:
1775:
1771:
1767:
1763:
1756:
1748:
1744:
1739:
1734:
1730:
1726:
1722:
1715:
1713:
1704:
1700:
1694:
1686:
1682:
1676:
1669:
1665:
1660:
1658:
1656:
1648:
1644:
1639:
1637:
1635:
1630:
1615:
1611:
1607:
1603:
1598:
1593:
1589:
1585:
1581:
1577:
1573:
1569:
1568:
1563:
1556:
1555:
1550:
1545:
1541:
1536:
1535:
1532:
1523:
1520:
1519:
1513:
1504:
1500:
1496:
1494:
1488:Role of TGF-β
1485:
1482:
1477:
1473:
1470:
1466:
1462:
1458:
1454:
1450:
1446:
1441:
1439:
1430:
1427:
1423:
1419:
1413:
1410:
1407:
1404:
1403:
1402:
1399:
1396:
1393:
1392:Elastogenesis
1388:
1379:
1375:
1373:
1369:
1364:
1362:
1358:
1354:
1350:
1346:
1342:
1338:
1328:
1324:
1310:
1308:
1304:
1300:
1290:
1288:
1284:
1280:
1276:
1272:
1268:
1259:
1257:
1253:
1249:
1245:
1242:
1238:
1237:chromosome 15
1235:, located on
1234:
1231:
1227:
1223:
1211:
1206:
1202:
1198:
1195:
1191:
1184:
1182:
1179:
1175:
1171:
1167:
1164:
1160:
1156:
1149:
1147:
1141:
1137:
1134:
1128:
1126:
1120:
1116:
1113:
1109:
1102:
1100:
1094:
1090:
1087:
1081:
1079:
1073:
1069:
1066:
1064:RefSeq (mRNA)
1062:
1055:
1054:
1049:
1045:
1042:
1036:
1035:
1030:
1026:
1023:
1021:
1017:
1010:
1009:
1004:
1000:
997:
991:
990:
985:
981:
978:
976:
972:
965:
964:
959:
955:
952:
946:
945:
940:
936:
933:
931:
927:
924:
921:
919:
916:
912:
909:
905:
901:
894:
890:
885:
879:
876:
874:
871:
869:
866:
864:
861:
859:
856:
854:
851:
849:
846:
844:
841:
839:
836:
834:
831:
829:
826:
824:
821:
819:
816:
814:
811:
809:
806:
804:
801:
799:
796:
794:
791:
789:
786:
784:
781:
779:
776:
774:
771:
769:
766:
764:
761:
760:
758:
755:
754:
748:
745:
743:
740:
738:
735:
733:
730:
728:
725:
723:
720:
718:
715:
713:
710:
708:
705:
704:
702:
699:
698:
692:
689:
687:
684:
682:
679:
677:
674:
672:
669:
667:
664:
662:
659:
657:
654:
652:
649:
648:
646:
643:
642:
639:
638:Gene ontology
635:
631:
619:
614:
610:
603:
598:
595:
593:
589:
581:
576:
565:
561:
557:
553:
549:
545:
541:
537:
533:
529:
528:
525:
521:
516:
513:
503:
499:
495:
491:
487:
483:
479:
475:
471:
467:
466:
463:
459:
454:
451:
450:
447:
445:
441:
439:
438:
434:
433:
430:
428:
424:
420:
416:
412:
404:
399:
395:
391:
386:
376:
372:
365:
358:
352:
345:
337:
333:
329:
324:
320:
315:
311:
303:
298:
294:
290:
285:
275:
271:
264:
257:
251:
244:
240:
234:
230:
226:
221:
217:
212:
208:
204:
200:
196:
192:
188:
184:
180:
176:
172:
168:
160:
155:
148:
143:
138:
127:
125:
121:
117:
113:
109:
105:
101:
97:
93:
89:
83:
78:
75:
74:
70:
67:
60:
56:
51:
47:
43:
38:
33:
30:
19:
3654:Tissue fluid
3472:
3457:
3442:
3427:
3412:
3397:
3382:
3367:
3307:
3262:
3258:
3225:
3221:
3194:
3190:
3156:(3): 284â9.
3153:
3149:
3114:
3110:
3079:
3075:
3036:
3032:
2993:
2989:
2939:
2935:
2925:
2893:(4): 662â7.
2890:
2886:
2846:
2842:
2798:
2794:
2784:
2749:
2745:
2735:
2692:
2688:
2678:
2645:
2641:
2587:
2583:
2573:
2543:(2): 83â90.
2540:
2536:
2488:
2484:
2474:
2439:
2435:
2371:
2367:
2357:
2333:(8): 885â9.
2330:
2326:
2274:
2270:
2226:
2222:
2170:
2166:
2096:
2092:
2082:
2067:
2058:
2049:
2024:
2020:
2014:
1979:
1975:
1937:
1933:
1927:
1902:
1898:
1867:(5): 230â4.
1864:
1860:
1853:
1818:
1814:
1804:
1769:
1765:
1755:
1728:
1724:
1702:
1693:
1684:
1675:
1571:
1565:
1553:
1552:
1531:
1510:
1501:
1497:
1491:
1480:
1478:
1474:
1468:
1444:
1442:
1436:
1428:
1424:
1420:
1417:
1400:
1397:
1386:
1385:
1376:
1365:
1336:
1334:
1325:
1321:
1296:
1266:
1265:
1248:microfibrils
1244:glycoprotein
1229:
1221:
1220:
1143:
1122:
1096:
1075:
1051:
1032:
1006:
987:
961:
942:
922:
917:
558:ciliary body
546:aortic valve
442:
435:
401:125,349,913
388:125,142,514
162:External IDs
85:
29:
3876:Specialized
3866:Mesenchymal
3837:Aponeurosis
3588:Tendon cell
3550:Composition
3531:Soft tissue
3350:PDB gallery
3191:Circulation
3039:(1): 9â25.
2167:Circulation
2059:Entrez Gene
2027:(1): 7â39.
1976:Development
1772:(1): 34â6.
1731:(1): 70â7.
1351:, isolated
1222:Fibrillin-1
732:microfibril
488:pericardium
472:skin of hip
300:48,645,721
287:48,408,313
140:Identifiers
3913:Categories
3621:Macrophage
3598:Melanocyte
3573:Fibroblast
3524:Physiology
2648:(1): 2â8.
1905:: 585â91.
1670:, May 2017
1649:, May 2017
1625:References
1275:proprotein
538:belly cord
446:(ortholog)
183:HomoloGene
3884:Cartilage
3853:Embryonic
3810:Submucosa
3770:Reticular
3699:Fibrillin
3616:Mast cell
3593:Adipocyte
3578:Fibrocyte
1614:Q38903109
1588:0378-1119
1522:Fibrillin
1453:scoliosis
1382:Mutations
1293:Structure
1283:fibrillin
1146:NP_032019
1125:NP_000129
1099:NM_007993
1078:NM_000138
908:Orthologs
496:vena cava
191:GeneCards
3827:Ligament
3566:Resident
3541:Scarring
3536:Fibrosis
3279:16677079
3250:26269805
3242:15861007
3213:15781745
3178:19069429
3170:15054843
3141:19479210
3133:12203987
3098:11108952
3063:10633129
3020:41867728
2966:17242066
2917:20529617
2865:23788295
2817:12511552
2727:13895128
2719:20591885
2670:33663469
2662:16222666
2622:32499652
2565:19962009
2557:22942299
2517:20529844
2466:25337071
2349:24740214
2301:17502658
2197:19635970
2123:24833718
2074:(OMIM):
2041:18155514
2006:23637335
1954:12524050
1919:25863307
1881:24613577
1845:27087445
1796:12525539
1747:10036187
1725:Genomics
1666:–
1645:–
1610:Wikidata
1606:27437668
1516:See also
1507:Losartan
1313:Function
1305:, and a
1287:asprosin
1194:Wikidata
887:Sources:
550:gastrula
3775:Adipose
3726:Elaunin
3721:EMILIN1
3694:Elastin
3314:PDBe-KB
3304:UniProt
3054:1734449
3012:9401003
2957:2063961
2908:2227916
2776:3536967
2767:2114568
2613:7410362
2592:Bibcode
2508:2915730
2457:4188161
2390:9267468
2292:1955191
2188:2779568
2114:4159151
1997:3912871
1836:4852710
1787:1735272
1668:Ensembl
1647:Ensembl
1597:6639799
1469:De Novo
1445:de novo
1307:proline
1226:protein
1020:UniProt
975:Ensembl
914:Species
893:QuickGO
476:decidua
421:pattern
279:15q21.1
147:Aliases
3861:Mucoid
3832:Tendon
3815:Dermis
3753:Proper
3682:COL3A1
3664:Fibers
3637:matrix
3309:P35555
3277:
3248:
3240:
3211:
3176:
3168:
3139:
3131:
3096:
3061:
3051:
3018:
3010:
2964:
2954:
2915:
2905:
2863:
2815:
2774:
2764:
2725:
2717:
2668:
2660:
2620:
2610:
2584:Nature
2563:
2555:
2515:
2505:
2464:
2454:
2388:
2347:
2299:
2289:
2235:940103
2233:
2195:
2185:
2121:
2111:
2039:
2004:
1994:
1952:
1917:
1879:
1843:
1833:
1794:
1784:
1745:
1612:
1604:
1594:
1586:
1359:, and
1180:search
1178:PubMed
1053:Q61554
1034:P35555
930:Entrez
592:BioGPS
562:dermis
171:134797
3894:Blood
3797:Dense
3785:White
3780:Brown
3762:Loose
3745:Types
3558:Cells
3246:S2CID
3174:S2CID
3137:S2CID
3016:S2CID
2723:S2CID
2666:S2CID
2561:S2CID
2537:Heart
2271:Heart
1554:Gene
1528:Notes
1271:exons
1224:is a
963:14118
923:Mouse
918:Human
889:Amigo
484:vulva
444:Mouse
437:Human
384:Start
319:Mouse
283:Start
216:Human
187:30958
179:95489
3889:Bone
3714:FBN3
3709:FBN2
3704:FBN1
3473:1uzq
3458:1uzp
3443:1uzk
3428:1uzj
3413:1lmj
3398:1emo
3383:1emn
3368:1apj
3302:for
3275:PMID
3238:PMID
3209:PMID
3166:PMID
3154:126A
3129:PMID
3094:PMID
3080:1498
3059:PMID
3008:PMID
2962:PMID
2913:PMID
2861:PMID
2813:PMID
2772:PMID
2715:PMID
2658:PMID
2618:PMID
2553:PMID
2513:PMID
2462:PMID
2386:PMID
2345:PMID
2297:PMID
2231:PMID
2193:PMID
2119:PMID
2037:PMID
2002:PMID
1950:PMID
1915:PMID
1877:PMID
1841:PMID
1815:Cell
1792:PMID
1743:PMID
1602:PMID
1584:ISSN
1567:Gene
1481:FBN1
1387:FBN1
1368:FBN2
1337:FBN1
1267:FBN1
1262:Gene
1233:gene
1230:FBN1
944:2200
427:Bgee
375:Band
336:Chr.
274:Band
233:Chr.
195:FBN1
167:OMIM
154:FBN1
124:2W86
120:2M74
116:1UZQ
112:1UZP
108:1UZK
104:1UZJ
100:1LMJ
96:1EMO
92:1EMN
88:1APJ
69:RCSB
66:PDBe
35:FBN1
18:FBN1
3300:PDB
3267:doi
3230:doi
3199:doi
3195:111
3158:doi
3119:doi
3084:doi
3049:PMC
3041:doi
2998:doi
2952:PMC
2944:doi
2940:176
2903:PMC
2895:doi
2851:doi
2803:doi
2799:278
2762:PMC
2754:doi
2750:103
2705:hdl
2697:doi
2650:doi
2646:139
2608:PMC
2600:doi
2588:582
2545:doi
2503:PMC
2493:doi
2489:285
2452:PMC
2444:doi
2376:doi
2335:doi
2331:150
2287:PMC
2279:doi
2183:PMC
2175:doi
2171:120
2109:PMC
2101:doi
2029:doi
1992:PMC
1984:doi
1980:140
1942:doi
1907:doi
1903:187
1869:doi
1831:PMC
1823:doi
1819:165
1782:PMC
1774:doi
1733:doi
1592:PMC
1576:doi
1572:591
397:End
296:End
199:OMA
175:MGI
59:PDB
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