Full name: collagen type VI alpha 2 chain

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BTHLM1; PP3610; UCMD1

Summary: 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]

Expression: Broad expression in placenta (RPKM 164.0), endometrium (RPKM 155.3) and 22 other tissues

Gene size: 34737bp

Exon count: 29