EAX09322.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
108,529 Da
NCBI Official Full Name
collagen, type VI, alpha 1, isoform CRA_b, partial
NCBI Official Synonym Full Names
collagen type VI alpha 1 chain
NCBI Protein Information
collagen alpha-1(VI) chain
UniProt Protein Name
Collagen alpha-1(VI) chain
NCBI Summary for COL6a1
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. [provided by RefSeq, Jul 2008]
UniProt Comments for COL6a1
COL6A1: Collagen VI acts as a cell-binding protein. Defects in COL6A1 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. Defects in COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. Belongs to the type VI collagen family.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: collagen type VI trimer; endoplasmic reticulum lumen; extracellular matrix; extracellular region; lysosomal membrane; membrane; protein complex; proteinaceous extracellular matrix; sarcolemma
Molecular Function: platelet-derived growth factor binding
Biological Process: cell adhesion; collagen catabolic process; extracellular matrix organization; osteoblast differentiation
Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy
Research Articles on COL6a1
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Products associated with anti-COL6a1 antibody
Pathways associated with anti-COL6a1 antibody
Diseases associated with anti-COL6a1 antibody
Organs/Tissues associated with anti-COL6a1 antibody
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