Recombinant Human Collagen alpha-2 (VI) chain (COL6A2), Truncated

Uniprot Id

P12110

Target Species

Human

Target Name

COL6A2

Target Full Name

Collagen alpha-2(VI) chain

Target Function

Collagen VI acts as a cell-binding protein.

Target Involvement

Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Myosclerosis autosomal recessive (MYOSAR)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.

Target Protein Families

Type VI collagen family

Target Research Area

Signal Transduction

Target Synonyms

CO6A2_HUMAN; COL6A2; Collagen alpha 2(VI) chain; Collagen alpha-2(VI) chain; collagen type VI alpha 2; Collagen VI alpha 2 polypeptide; human mRNA for collagen VI alpha 2 C terminal globular domain; PP3610

Target Background

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.