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COL9A2 is 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.
Gene Name: | Collagen, Type IX, Alpha 2 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL9A2, Collagen, type IX, alpha 2, MED, Alpha 2 type IX collagen, Collagen alpha-2(IX) chain, DJ39G22.4, EDM2, STL5 |
Target Sequences: | NM_001852 NP_001843.1 Q14055 |
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