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FBN1
Introduction
Fibrillin 1, also known as FBN1, is a human gene.
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.[1]
Further reading
Further reading
- Hayward C, Brock DJ (1998). “Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies”. Hum. Mutat. 10 (6): 415โ23. doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. PMIDย 9401003. Unknown parameter
|doilabel=ignored (help) - Robinson PN, Godfrey M (2000). “The molecular genetics of Marfan syndrome and related microfibrillopathies”. J. Med. Genet. 37 (1): 9โ25. PMIDย 10633129.
- Handford PA (2001). “Fibrillin-1, a calcium binding protein of extracellular matrix”. Biochim. Biophys. Acta. 1498 (2โ3): 84โ90. PMIDย 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): 153โ61. doi:10.1002/humu.10113. PMIDย 12203987.
- Adรจs LC, Holman KJ, Brett MS; et al. (2004). “Ectopia lentis phenotypes and the FBN1 gene”. Am. J. Med. Genet. A. 126 (3): 284โ9. doi:10.1002/ajmg.a.20605. PMIDย 15054843.
- Milewicz DM, Dietz HC, Miller DC (2005). “Treatment of aortic disease in patients with Marfan syndrome”. Circulation. 111 (11): e150โ7. doi:10.1161/01.CIR.0000155243.70456.F4. PMIDย 15781745.
- Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). “Molecular genetics of Marfan syndrome”. Curr. Opin. Cardiol. 20 (3): 194โ200. PMIDย 15861007.
- Whiteman P, Hutchinson S, Handford PA (2006). “Fibrillin-1 misfolding and disease”. Antioxid. Redox Signal. 8 (3โ4): 338โ46. doi:10.1089/ars.2006.8.338. PMIDย 16677079.