Analysis of COL6A3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1545-LGZ)

Introduction

Official Full Name: collagen type VI alpha 3 chain
Also known as: DYT27; UCMD1; BTHLM1
The gene encodes the alpha-3 chain, one of the three alpha chains of collagen type VI, a beaded filament of collagen found in most connective tissues. The α-3 chain of type VI collagen is much larger than the α-1 and α-2 chains. This difference in size is primarily due to an increased number of subdomains, similar to the von Willebrand factor-A domain found in the amino-terminal globular domain of all α-chains. These domains have been shown to bind extracellular matrix proteins, and this interaction explains the importance of collagen as a constituent of the tissue matrix. Mutations in the type VI collagen gene are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with onset in early childhood. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. ave been identified, but the full-length nature of Only some of these variants have been described.