COL9A1
collagen, type IX, alpha 1
Synonyms:
DJ149L1.1.2, EDM6, MED, STL4
Species:
Human COL9A1 (1297), Mouse Col9a1 (12839), Rat Col9a1 (305104), Zebrafish col9a1 (406548), dog COL9A1 (481873), cow COL9A1 (282195), domestic cat COL9A1 (101086148), chicken COL9A1 (771873), sheep COL9A1 (101102992), domestic guinea pig Col9a1 (100723407)
UniProtKB ID:
Gene ID:
- Human(1297) Summary: This gene encodes 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. [provided by RefSeq, Jul 2008]
- Mouse(12839) collagen, type IX, alpha 1
- Rat(305104) collagen, type IX, alpha 1
- Zebrafish(406548) collagen, type IX, alpha 1
- dog(481873) collagen, type IX, alpha 1
- cow(282195) collagen, type IX, alpha 1
- domestic cat(101086148) collagen, type IX, alpha 1
- chicken(771873) collagen, type IX, alpha 1
- sheep(101102992) collagen, type IX, alpha 1
- domestic guinea pig(100723407) collagen, type IX, alpha 1
- naked mole-rat(101726107) collagen, type IX, alpha 1
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