FBN1

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FBN1
Protein FBN1 PDB 1apj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
External IDs MGI: 95489 HomoloGene: 30958 GeneCards: 2200
Genetically Related Diseases
Disease Name References
breast cancer
RNA expression pattern
PBB GE FBN1 202765 s at tn.png

PBB GE FBN1 202766 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000138

NM_007993

RefSeq (protein)

NP_000129.3

n/a

Location (UCSC) Chr 15: 48.41 – 48.65 Mb Chr 2: 125.3 – 125.51 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.[4][5]

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.[6]

Clinical significance[edit]

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .[7]

See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1612&geneId=46107". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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 1735272free to read. PMID 12525539. 
  6. ^ "Entrez Gene: FBN1 fibrillin 1". 
  7. ^ 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]