COL12A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 120320; MGI: 88448; HomoloGene: 3217; GeneCards: COL12A1; OMA:COL12A1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.[5][6]
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.
Alternatively spliced transcript variants encoding different isoforms have been identified.[6]
Mutations in COL12A1 are known to cause the following conditions:
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Extracellular matrix |
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Other |
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