NP_004360.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Mol_Mass: 11.4 kDa AP_Mol_Mass: 13.3 kDa
NCBI Official Full Name
collagen alpha-3(VI) chain isoform 1
NCBI Official Synonym Full Names
collagen type VI alpha 3 chain
NCBI Protein Information
collagen alpha-3(VI) chain
UniProt Protein Name
Collagen alpha-3(VI) chain
NCBI Summary for COL6A3
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, Jun 2009]
UniProt Comments for COL6A3
Collagen VI acts as a cell-binding protein.
Research Articles on COL6A3
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Products associated with COL6A3 recombinant protein
Pathways associated with COL6A3 recombinant protein
Diseases associated with COL6A3 recombinant protein
Organs/Tissues associated with COL6A3 recombinant protein
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