Entrez gene ID | | 1298 |
Official gene symbol | | COL9A2 |
Full name | | collagen, type IX, alpha 2 |
Aliases | | ,DJ39G22.4,EDM2,MED, |
Gene summary | | 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. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p33-p32 |
Gene position | | 40782939 - 40766163 Map Viewer |
Gene orientation | | minus |
Gene size | | 16777 bp |
Gene sequence |
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OMIM ID | | 120260 |
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