FBN1

Fibrillin 1
PDB rendering based on 1apj.
Available structures PDB 1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2W86
Identifiers
Symbols	FBN1; FBN; MASS; MFS1; OCTD; SGS; SSKS; WMS
External IDs	OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1 Gene
Gene Ontology Molecular function • extracellular matrix structural constituent • calcium ion binding • protein binding Cellular component • microfibril • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • extracellular matrix Biological process • skeletal system development • heart development • negative regulation of BMP signaling pathway by extracellular sequestering of BMP • negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2200	14118
Ensembl	ENSG00000166147	ENSMUSG00000027204
UniProt	P35555	Q3TRZ5
RefSeq (mRNA)	NM_000138.4	NM_007993.2
RefSeq (protein)	NP_000129.3	NP_032019.2
Location (UCSC)	Chr 15: 48.7 – 48.94 Mb	Chr 2: 125.13 – 125.33 Mb
PubMed search	[1]	[2]

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

• Fibrillin

References

1. ^ 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. 
2. ^ 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. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735272. 
3. ^ "Entrez Gene: FBN1 fibrillin 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2200. 

External links

• GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome

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. PMC 1734449. PMID 10633129. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734449. 
• 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.