FBN1

Fibrillin 1
PDB rendering based on 1apj.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1apj​, 1emn​, 1emo​, 1lmj​, 1uzj​, 1uzk​, 1uzp​, 1uzq​
Identifiers
Symbols	FBN1 ; FBN; MASS; MFS1; OCTD; SGS; WMS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 30958
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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.

See also

• Fibrillin

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. 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). "Molecular genetics of Marfan syndrome". Curr. Opin. Cardiol. 20 (3): 194–200. PMID 15861007.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)

ar:إف بي إن 1

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