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COL2A1 / Collagen II Alpha 1 is the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.
Gene Name: | collagen, type II, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL2A1, Alpha-1 type II collagen, Cartilage collagen, COL11A3, Collagen alpha 1(ii), Collagen, type II, alpha 1, Collagen alpha-1(II) chain, Chondrocalcin, ANFH, AOM, SEDC |
Target Sequences: | NM_001844 NP_001835.3 P02458 |
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