COL6A3 / Collagen-VI Recombinant Protein | COL6A3 recombinant protein

Recombinant Human COL6A3 / Collagen-VI Protein

Cat. Num. AAA173517

• Gene Names: COL6A3; DYT27; UCMD1; BTHLM1
• Purity: > 95 % as determined by SDS-PAGE.
• Synonyms: COL6A3 / Collagen-VI; N/A; Recombinant Human COL6A3 / Collagen-VI Protein; COL6A3, Collagen-VI; COL6A3 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: > 95 % as determined by SDS-PAGE.
• Form/Format: Supplied as sterile PBS, pH7.4
• Concentration: 0.39 mg/mL (varies by lot)
• Sequence Length: 3177

• Species: Human
• Sequence: Thr3101-Thr3177
• Endotoxin: <1.0 EU per mug protein as determined by the LAL method.
• Preparation and Storage: Store at <-20°C . Please minimize free

SDS-PAGE

Related Product Information for COL6A3 recombinant protein

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.

NCBI and Uniprot Product Information

• NCBI GI #: 55743098
• NCBI GeneID: 1293
• NCBI Accession #: NP_004360.2
• NCBI GenBank Nucleotide #: NM_004369.3
• Molecular Weight: 8.5 kDa
• NCBI Official Full Name: collagen alpha-3(VI) chain isoform 1
• NCBI Official Synonym Full Names: collagen type VI alpha 3 chain
• NCBI Official Symbol: COL6A3
• NCBI Official Synonym Symbols: DYT27; UCMD1; BTHLM1
• NCBI Protein Information: collagen alpha-3(VI) chain
• UniProt Protein Name: Collagen alpha-3(VI) chain
• UniProt Gene Name: COL6A3