Synonyms:COL9A2, DJ39G22.4, EDM2, ENTREZ:1298, HGNC:2218, MED, MIM:120260, NM_001852, NP_001843, STL5, XM_006710365, XM_011540715, XM_011540716, XM_011540717, XM_017000332, XM_017000333, XP_006710428, XP_011539017, XP_011539018, XP_011539019, XP_016855821, XP_016855822, collagen type IX alpha 2 chain
Omim:OMIM:120260
Id:ENSG00000049089
Hgnc:HGNC:2218
Description:collagen type IX alpha 2 chain
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, Jul 2008]