Gene Symbol | COL9A2 |
Entrez Gene ID | 1298 |
Full Name | collagen type IX alpha 2 chain |
Synonyms | DJ39G22.4,EDM2,MED,STL5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epiphyseal dysplasia, multiple, 2, 600204 (3); ?Stickler syndrome, type V, 614284 (3) |