COL6A1
COL6A1 encodes the alpha 1 subunit of type VI collagen, also called the alpha1(VI) chain or collagen alpha-1(VI) chain. It is a secreted extracellular matrix protein and a major structural component of microfibrils. Browse Assay Genie's current range of COL6A1 research reagents below, or read on for the biology behind the target.
Collagen VI acts as a cell-binding protein. It is a major structural component of microfibrils in the extracellular matrix. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI) and alpha3(VI) chains, so the COL6A1 gene product works together with the chains encoded by COL6A2 and COL6A3 rather than on its own. The COL6A1 protein is the alpha 1 subunit of this assembly.
COL6A1 belongs to the type VI collagen family, within the wider collagen superfamily. Collagens are extracellular matrix proteins that help maintain the integrity of various tissues, and they share a triple-helical domain as their common structural element. The mature COL6A1 protein is secreted into the extracellular space and incorporated into the matrix. The mouse ortholog is Col6a1, which is useful for comparative and model-organism work on the COL6A1 gene.
HGNC lists the gene under the Collagens group, and its previous name was collagen, type VI, alpha 1. Mutations in the genes that code for the collagen VI subunits result in Bethlem myopathy, an autosomal dominant disorder. This link makes COL6A1 a common subject in studies of collagen VI assembly, matrix organisation and inherited muscle disease. Researchers working with COL6A1 antibody, COL6A1 ELISA kit or COL6A1 protein reagents typically study it alongside its partner chains COL6A2 and COL6A3.
COL6A1 is a major structural component of microfibrils, making it relevant to studies of how the extracellular matrix is built and maintained.
Mutations in collagen VI subunit genes cause the autosomal dominant disorder Bethlem myopathy, which links COL6A1 to neuromuscular disease studies.
The alpha1(VI), alpha2(VI) and alpha3(VI) chains form the heterotrimeric structural unit, so COL6A1 is central to subunit assembly questions.
Collagen VI acts as a cell-binding protein, so COL6A1 is studied in how cells attach to and interact with their surrounding matrix.
COL6A1 encodes the alpha 1 subunit of type VI collagen. Collagen VI acts as a cell-binding protein and is a major structural component of microfibrils in the extracellular matrix. It forms a heterotrimer with the alpha2(VI) and alpha3(VI) chains.
The HGNC name is collagen type VI alpha 1 chain, with the previous name collagen, type VI, alpha 1. UniProt calls the protein collagen alpha-1(VI) chain, and it is also referred to as the alpha1(VI) chain. No other aliases are listed.
Mutations in the genes coding for collagen VI subunits result in the autosomal dominant disorder Bethlem myopathy. The mouse ortholog is Col6a1; check the datasheet of any product for its validated reactivity.
Partner chains of collagen VI and other members of the collagen superfamily with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P12109; product specifications from Assay Genie datasheets.