Gene Symbol | COL12A1 |
Entrez Gene ID | 1303 |
Full Name | collagen type XII alpha 1 chain |
Synonyms | BA209D8.1,BTHLM2,COL12A1L,DJ234P15.1,UCMD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Ullrich congenital muscular dystrophy 2, 616470 (3); Bethlem myopathy 2, 616471 (3) |