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Genetics Home Reference: your guide to understanding genetic conditions
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COL6A3

Reviewed October 2010

What is the official name of the COL6A3 gene?

The official name of this gene is “collagen, type VI, alpha 3.”

COL6A3 is the gene's official symbol. The COL6A3 gene is also known by other names, listed below.

What is the normal function of the COL6A3 gene?

The COL6A3 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 COL6A3 gene is the alpha(α)3(VI) chain of type VI collagen. This chain combines with two other types of α(VI) chains (the α1 and α2 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).

Does the COL6A3 gene share characteristics with other genes?

The COL6A3 gene belongs to a family of genes called COL (collagens).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the COL6A3 gene related to health conditions?

Bethlem myopathy - caused by mutations in the COL6A3 gene

At least 10 mutations in the COL6A3 gene have been found to cause Bethlem myopathy. Most of these mutations change single protein building blocks (amino acids) in the α3(VI) chain, which alters its structure. If the abnormal chain is not incorporated into type VI collagen, but is instead broken down soon after it is made, then not enough α3(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.

In people with Bethlem myopathy, some normal type VI collagen is produced, but not enough to form a strong extracellular matrix. Over time, a deficient extracellular matrix leads to muscle weakness and the other signs and symptoms of Bethlem myopathy. Mutations in the COL6A3 gene are responsible for approximately 15 percent of all cases of Bethlem myopathy.

Ullrich congenital muscular dystrophy - caused by mutations in the COL6A3 gene

At least 10 mutations in the COL6A3 gene have been found to cause Ullrich congenital muscular dystrophy. Some of these mutations change single amino acids and some disrupt the way the gene's instructions are used to make the α3(VI) chain. These mutations 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.

Where is the COL6A3 gene located?

Cytogenetic Location: 2q37

Molecular Location on chromosome 2: base pairs 237,324,011 to 237,414,206

The COL6A3 gene is located on the long (q) arm of chromosome 2 at position 37.

The COL6A3 gene is located on the long (q) arm of chromosome 2 at position 37.

More precisely, the COL6A3 gene is located from base pair 237,324,011 to base pair 237,414,206 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about COL6A3?

You and your healthcare professional may find the following resources about COL6A3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the COL6A3 gene or gene products?

  • CO6A3_HUMAN
  • collagen alpha-3(VI) chain
  • collagen VI, alpha-3 polypeptide

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding COL6A3?

acids ; cell ; collagen ; congenital ; deficiency ; extracellular ; extracellular matrix ; gene ; molecule ; monomer ; muscle cell ; muscle cells ; muscular dystrophy ; 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).

References

  • Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62(4):390-405. (http://www.ncbi.nlm.nih.gov/pubmed/17886299?dopt=Abstract)
  • Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24. (http://www.ncbi.nlm.nih.gov/pubmed/15563506?dopt=Abstract)
  • OMIM: COLLAGEN, TYPE VI, ALPHA-3 (http://omim.org/entry/120250)
  • Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. 2005 Sep;42(9):673-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16141002?dopt=Abstract)
  • Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005 Feb;42(2):108-20. (http://www.ncbi.nlm.nih.gov/pubmed/15689448?dopt=Abstract)
  • Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. (http://www.ncbi.nlm.nih.gov/pubmed/18366090?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1293)

 

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.

 
Reviewed: October 2010
Published: December 22, 2014