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COL9A1 / Collagen IX
collagen, type IX, alpha 1
COL9A1 / Collagen IX is one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene.
| Gene Name: | collagen, type IX, alpha 1 |
| Family/Subfamily: | Collagen , not assigned-Collagen |
| Synonyms: | COL9A1, Alpha-1(IX) collagen chain, Collagen alpha-1(IX) chain, Collagen, type IX, alpha 1, EDM6, MED, STL4, DJ149L1.1.2 |
| Target Sequences: | NM_001851 NP_001842.3 |
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