Aliases for COL12A1 Gene
External Ids for COL12A1 Gene
Previous HGNC Symbols for COL12A1 Gene
Previous GeneCards Identifiers for COL12A1 Gene
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]
GeneCards Summary for COL12A1 Gene
COL12A1 (Collagen Type XII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL12A1 include Bethlem Myopathy 2 and Ullrich Congenital Muscular Dystrophy 2. Among its related pathways are Degradation of the extracellular matrix and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL14A1.
UniProtKB/Swiss-Prot for COL12A1 Gene
Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.