Products

Western Blot (Cell lysate)

Western Blot analysis of U-87 MG cell lysate with COL6A3 polyclonal antibody (Cat # PAB31418).

Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)

Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human ovary with COL6A3 polyclonal antibody (Cat # PAB31418) shows moderate cytoplasmic positivity in ovarian stromal cells.

Entrez GeneID

1293

Protein Accession#

P12111

Gene Name

COL6A3

Gene Alias

DKFZp686D23123, DKFZp686K04147, DKFZp686N0262, FLJ34702, FLJ98399

Gene Description

collagen, type VI, alpha 3

Omim ID

120250 158810 254090

Gene Ontology

Hyperlink

Gene Summary

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. 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. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq

Other Designations

alpha 3 type VI collagen|collagen VI, alpha-3 polypeptide