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Open Access Articles- Top Results for FBN1

FBN1

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Identifiers
SymbolsFBN1 ; ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
External IDsOMIM134797 MGI95489 HomoloGene30958 GeneCards: FBN1 Gene
RNA expression pattern
File:PBB GE FBN1 202766 s at tn.png
File:PBB GE FBN1 202765 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez220014118
EnsemblENSG00000166147ENSMUSG00000027204
UniProtP35555A2AQ53
RefSeq (mRNA)NM_000138NM_007993
RefSeq (protein)NP_000129NP_032019
Location (UCSC)Chr 15:
48.7 – 48.94 Mb
Chr 2:
125.3 – 125.51 Mb
PubMed search[1][2]

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.[1][2]

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serves 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]

Clinical significance

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .[4]

See also

References

  1. Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (Feb 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics 56 (1): 70–7. PMID 10036187. doi:10.1006/geno.1998.5697. 
  2. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR et al. (Jan 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics 40 (1): 34–6. PMC 1735272. PMID 12525539. doi:10.1136/jmg.40.1.34. 
  3. "Entrez Gene: FBN1 fibrillin 1". 
  4. Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T et al. (Oct 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics 23 (19): 5271–82. PMID 24833718. doi:10.1093/hmg/ddu224. 

External links

Further reading

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