FBN1

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Fibrillin 1
Protein FBN1 PDB 1apj.png
PDB rendering based on 1apj.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FBN1 ; ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
External IDs OMIM134797 MGI95489 HomoloGene30958 GeneCards: FBN1 Gene
RNA expression pattern
PBB GE FBN1 202766 s at tn.png
PBB GE FBN1 202765 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2200 14118
Ensembl ENSG00000166147 ENSMUSG00000027204
UniProt P35555 A2AQ53
RefSeq (mRNA) NM_000138 NM_007993
RefSeq (protein) NP_000129 NP_032019
Location (UCSC) Chr 15:
48.41 – 48.65 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[edit]

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

See also[edit]

References[edit]

  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. 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". Journal of Medical Genetics 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539. 
  3. ^ "Entrez Gene: FBN1 fibrillin 1". 
  4. ^ Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA (Oct 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics 23 (19): 5271–82. doi:10.1093/hmg/ddu224. PMID 24833718. 

External links[edit]

Further reading[edit]