Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene.[1][2]
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.[3]
See also
References
- ^ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (May 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics 56 (1): 70-7. doi:10.1006/geno.1998.5697. PMID 10036187.
- ^ Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V (Jan 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". J Med Genet 40 (1): 34-6. PMID 12525539.
- ^ "Entrez Gene: FBN1 fibrillin 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2200.
Further reading
- Hayward C, Brock DJ (1998). "Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.". Hum. Mutat. 10 (6): 415–23. doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. PMID 9401003.
- Robinson PN, Godfrey M (2000). "The molecular genetics of Marfan syndrome and related microfibrillopathies.". J. Med. Genet. 37 (1): 9–25. doi:10.1136/jmg.37.1.9. PMID 10633129.
- Handford PA (2001). "Fibrillin-1, a calcium binding protein of extracellular matrix.". Biochim. Biophys. Acta 1498 (2-3): 84–90. PMID 11108952.
- Robinson PN, Booms P, Katzke S, et al. (2002). "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.". Hum. Mutat. 20 (3): 153–61. doi:10.1002/humu.10113. PMID 12203987.
- Adès LC, Holman KJ, Brett MS, et al. (2004). "Ectopia lentis phenotypes and the FBN1 gene.". Am. J. Med. Genet. A 126 (3): 284–9. doi:10.1002/ajmg.a.20605. PMID 15054843.
- Milewicz DM, Dietz HC, Miller DC (2005). "Treatment of aortic disease in patients with Marfan syndrome.". Circulation 111 (11): e150–7. doi:10.1161/01.CIR.0000155243.70456.F4. PMID 15781745.
- Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). "Molecular genetics of Marfan syndrome.". Curr. Opin. Cardiol. 20 (3): 194–200. doi:10.1097/01.hco.0000162398.21972.cd. PMID 15861007.
- Whiteman P, Hutchinson S, Handford PA (2006). "Fibrillin-1 misfolding and disease.". Antioxid. Redox Signal. 8 (3-4): 338–46. doi:10.1089/ars.2006.8.338. PMID 16677079.
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1apj: NMR STUDY OF THE TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN-LIKE DOMAIN (TB MODULE/8-CYS DOMAIN), NMR, 21 STRUCTURES
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1emn: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, MINIMIZED AVERAGE STRUCTURE
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1emo: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, 22 STRUCTURES
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1lmj: NMR Study of the Fibrillin-1 cbEGF12-13 Pair of Ca2+ Binding Epidermal Growth Factor-like Domains
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1uzj: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, HOLO FORM.
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1uzk: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY
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1uzp: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY.
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1uzq: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY.
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