| Collagen, Type Ii, Alpha-1 | OKDB#: 3680 |
| Symbols: | COL2A1 | Species: | human | ||
| Synonyms: | AOM, SEDC, COL11A3, MGC131516,COLLAGEN, TYPE II|COLLAGEN OF CARTILAGE|CHONDROCALCIN, INCLUDED|VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA, INCLUDED | Locus: | 12q13.11-q13.2 in Homo sapiens |
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Entrez Gene
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| General Comment | NCBI 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. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Jan. 31, 2007, 1:26 p.m. | by: |
hsueh email:
home page: |
| last update: | Jan. 31, 2007, 1:26 p.m. | by: | hsueh email: |
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