Entrez gene ID | | 1280 |
Official gene symbol | | COL2A1 |
Full name | | collagen, type II, alpha 1 |
Aliases | | ,ANFH,AOM,COL11A3,MGC131516,SEDC, |
Gene summary | | This gene encodes 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. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q13.11 |
Gene position | | 48398285 - 48366748 Map Viewer |
Gene orientation | | minus |
Gene size | | 31538 bp |
Gene sequence |
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OMIM ID | | 120140 |
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