Collagen Type VI Alpha 2 (COL6a2)

Collagen alpha-2(VI) chain is 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.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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type VI Alpha 2 (COL6a2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type VI Alpha 2 (COL6a2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type VI Alpha 2 (COL6a2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type VI Alpha 2 (COL6a2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type VI Alpha 2 (COL6a2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type VI Alpha 2 (COL6a2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type VI Alpha 2 (COL6a2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type VI Alpha 2 (COL6a2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type VI Alpha 2 (COL6a2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type VI Alpha 2 (COL6a2) ELISA Kit Customized Service Offer
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