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The official name of this gene is “collagen, type VI, alpha 1.”
COL6A1 is the gene's official symbol. The COL6A1 gene is also known by other names, listed below.
The COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein that surrounds muscle cells. Specifically, the protein produced from the COL6A1 gene is the alpha(α)1(VI) chain of type VI collagen. This chain combines with two other types of α(VI) chains (the α2 and α3 chains) to make a molecule called a collagen VI monomer. Two collagen VI monomers attach (bind) together to form collagen VI dimers. Two dimers group together to form a larger molecule called a tetramer, which is the complete type VI collagen molecule.
Type VI collagen molecules form complex networks that make up a large portion of the extracellular matrix surrounding muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth. Type VI collagen networks play an especially important role in the extracellular matrix of muscle that is used for movement (skeletal muscle).
At least 18 mutations in the COL6A1 gene have been found to cause Bethlem myopathy. These mutations result in the production of an abnormal α1(VI) chain. If this abnormal chain is incorporated into type VI collagen, the resulting collagen molecule will not function normally. If the abnormal chain is not incorporated into type VI collagen, but is instead broken down soon after it is made, then not enough α1(VI) chain is available for the formation of type VI collagen. The loss of this chain leads to decreased amounts of this type of collagen.
The most common COL6A1 gene mutation, which is written as IVS14+1G>A, leads to the production of an α1(VI) chain that is missing several protein building blocks (amino acids). The altered chain cannot bind with the other α(VI) chains to form type VI collagen.
In people with Bethlem myopathy, some normal type VI collagen is produced, but not enough to form a strong extracellular matrix. A shortage (deficiency) of normal type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to muscle weakness and the other signs and symptoms of Bethlem myopathy. Mutations in the COL6A1 gene are responsible for most cases of Bethlem myopathy.
At least 12 mutations in the COL6A1 gene have been found to cause Ullrich congenital muscular dystrophy. Most of these mutations change single amino acids in the α1(VI) chain. The COL6A1 gene mutations that cause Ullrich congenital muscular dystrophy result in an absence or severe deficiency of type VI collagen. A lack of type VI collagen disrupts the extracellular matrix surrounding muscle cells, leading to muscle weakness and the other signs and symptoms of Ullrich congenital muscular dystrophy.
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 47,401,662 to 47,424,962
The COL6A1 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the COL6A1 gene is located from base pair 47,401,662 to base pair 47,424,962 on chromosome 21.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about COL6A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cell ; collagen ; congenital ; deficiency ; extracellular ; extracellular matrix ; gene ; molecule ; muscular dystrophy ; mutation ; protein ; skeletal muscle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.