Fibrillin-1

FBN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
External IDsOMIM: 134797; MGI: 95489; HomoloGene: 30958; GeneCards: FBN1; OMA:FBN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000138

NM_007993

RefSeq (protein)

NP_000129

NP_032019

Location (UCSC)Chr 15: 48.41 – 48.65 MbChr 2: 125.14 – 125.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.[5][6] It 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 altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166147Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027204Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (February 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.
  6. ^ Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. (January 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.