COL6A2

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]

本基因编码了类型VI胶原的三个α链之一，该胶原为一种在多数结缔组织中发现的串珠状纤维胶原。该基因产物含有多个与冯·维勒布兰德因子A型结构域相似的域。这些域已被证实能够与细胞外基质蛋白结合，这种相互作用解释了该胶原在组织矩阵成分中的重要性。本基因中的突变与贝思勒姆肌病和乌尔利希硬化性肌营养不良症相关。对于该基因，已鉴定出三种转录变体。[由RefSeq提供，2008年7月]