| collagen, type II, alpha 1 | OKDB#: 5525 |
| Symbols: | Col2a1 | Species: | human | ||
| Synonyms: | Dmm, Lpk, Col2, Del1, Col2a, Col2a-1, Rgsc856 | Locus: | 15 53.97 cM in Homo sapiens |
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| General Comment | NCBI Summary: This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015] | |||
| General function | Actin binding | |||
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| Cellular localization | Extracellular Matrix | |||
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| Ovarian localization | Granulosa | |||
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| Mutations | 0 mutations | |||
| Genomic Region | show genomic region | |||
| Phenotypes and GWAS | show phenotypes and GWAS | |||
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| created: | Dec. 26, 2017, noon | by: |
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| last update: | Dec. 26, 2017, noon | by: | hsueh email: |
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