FBN1

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Fibrillin 1
PDB rendering based on 1apj.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols FBN1 ; FBN; MASS; MFS1; OCTD; SGS; WMS
External IDs Template:OMIM5 Template:MGI HomoloGene30958
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.[1]

See also

References

  1. "Entrez Gene: FBN1 fibrillin 1".

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. Unknown parameter |doilabel= ignored (help)
  • 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.
  • 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. 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.


ar:إف بي إن 1


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