Rabbit anti-Human COL6A1 Polyclonal Antibody

Uniprot Id

P12109

Target Species

Human

Target Name

COL6A1

Target Full Name

Collagen alpha-1(VI) chain

Target Function

Collagen VI acts as a cell-binding protein.

Target Involvement

Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Type VI collagen family

Target Synonyms

Alpha 1 (VI) chain (61 AA); CO6A1_HUMAN; COL6A1; COL6A2; COL6A3; collagen 6; Collagen alpha 2(VI) chain; Collagen alpha 3(VI) chain; Collagen alpha-1(VI) chain; collagen six; Collagen type VI alpha 1; Collagen type VI alpha 2; Collagen type VI alpha 3; Collagen VI alpha 1 polypeptide; Collagen VI alpha 2 polypeptide; Collagen VI alpha 3 polypeptide; CollagenVI; Human mRNA for collagen VI alpha 2 C terminal globular domain; OPLL; PP3610

Target Background

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.