FBN1

From Wikipedia, the free encyclopedia

Fibrillin 1

PDB rendering based on 1apj.

Available structures: 1apj, 1emn, 1emo, 1lmj, 1uzj, 1uzk, 1uzp, 1uzq

Identifiers

Symbol(s)

FBN1; FBN; MASS; MFS1; OCTD; SGS; WMS

External IDs

OMIM: 134797 MGI: 95489 HomoloGene: 30958

Gene ontology
Molecular Function:	• transmembrane receptor activity • extracellular matrix structural constituent • calcium ion binding
Cellular Component:	• microfibril • basement membrane • extracellular space • membrane
Biological Process:	• skeletal development • heart development • blood coagulation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000138 (mRNA)
NP_000129 (protein)

NM_007993 (mRNA)
NP_032019 (protein)

Location

Chr 15: 46.49 - 46.72 Mb

Chr 2: 124.99 - 125.2 Mb

Pubmed search

[1]

[2]

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]

[edit] See also

Fibrillin

[edit] References

^ Entrez Gene: FBN1 fibrillin 1.

[edit] 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.
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.