| Gene Symbol | COL2A1 |
| Entrez Gene ID | 1280 |
| Full Name | collagen type II alpha 1 chain |
| Synonyms | ANFH,AOM,COL11A3,SEDC,STL1 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3); Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900 (3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3); Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) |
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