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Open Access Articles- Top Results for COL9A3

COL9A3

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Identifiers
SymbolsCOL9A3 ; DJ885L7.4.1; EDM3; IDD; MED
External IDsOMIM120270 MGI894686 HomoloGene20438 GeneCards: COL9A3 Gene
RNA expression pattern
File:PBB GE COL9A3 204724 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez129912841
EnsemblENSG00000092758ENSMUSG00000027570
UniProtQ14050A2ACT7
RefSeq (mRNA)NM_001853NM_009936
RefSeq (protein)NP_001844NP_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

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

  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. PMID 8586434. doi:10.1006/geno.1995.9870. 
  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

Further reading

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