COL9A3

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Collagen, type IX, alpha 3
Identifiers
Symbols COL9A3 ; DJ885L7.4.1; EDM3; IDD; MED
External IDs OMIM120270 MGI894686 HomoloGene20438 GeneCards: COL9A3 Gene
RNA expression pattern
PBB GE COL9A3 204724 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1299 12841
Ensembl ENSG00000092758 ENSMUSG00000027570
UniProt Q14050 A2ACT7
RefSeq (mRNA) NM_001853 NM_009936
RefSeq (protein) NP_001844 NP_034066
Location (UCSC) Chr 20:
61.45 – 61.47 Mb
Chr 2:
180.6 – 180.62 Mb
PubMed search [1] [2]

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.[1][2][3]

Function[edit]

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia.[3]

References[edit]

  1. ^ Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al. (Mar 1996). "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3". Genomics 30 (2): 329–36. doi:10.1006/geno.1995.9870. PMID 8586434. 
  2. ^ Wu JJ, Woods PE, Eyre DR (Dec 1992). "Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding". J Biol Chem 267 (32): 23007–14. PMID 1429648. 
  3. ^ a b "Entrez Gene: COL9A3 collagen, type IX, alpha 3". 

External links[edit]

Further reading[edit]