Aliases for COL6A2 Gene
External Ids for COL6A2 Gene
Previous GeneCards Identifiers for COL6A2 Gene
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL6A2 Gene
COL6A2 (Collagen Type VI Alpha 2) is a Protein Coding gene. Diseases associated with COL6A2 include Bethlem Myopathy 1 and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. An important paralog of this gene is COL6A1.
UniProtKB/Swiss-Prot for COL6A2 Gene
Collagen VI acts as a cell-binding protein.