COL6A2 Antibody – Mouse Monoclonal

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]

COL6A2: Collagen VI acts as a cell-binding protein. Defects in COL6A2 are a cause of Bethlem myopathy (BM). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR); also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Belongs to the type VI collagen family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide; Extracellular matrix

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: extracellular matrix; extracellular space; proteinaceous extracellular matrix; protein complex; collagen; endoplasmic reticulum lumen; extracellular region; vesicle; sarcolemma

Molecular Function: protein binding

Biological Process: axon guidance; collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; response to glucose stimulus; cell adhesion

Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy; Myosclerosis, Autosomal Recessive