Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed October 2015

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 found in the space that surrounds cells. Specifically, the protein produced from the COL6A3 gene is the alpha(α)3(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.

Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

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? ( in the Handbook.

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

collagen VI-related myopathy - caused by mutations in the COL6A3 gene

Mutations in the COL6A3 gene have been found to cause some cases of collagen VI-related myopathy, which is a group of disorders that vary in severity but generally result in muscle weakness and joint deformities called contractures. These mutations often change single protein building blocks (amino acids) in the α3(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α3(VI) chain. Other mutations can also disrupt the structure of the α3(VI) chain.

Mutations in the COL6A3 gene affect type VI collagen in different ways. Some mutations lead to altered α3(VI) chains that can be incorporated into the mature type VI collagen molecule, although they disrupt the molecule's structure and function. Other mutations result in an altered chain that cannot be incorporated at all. Still other mutations prevent the production of any functional α3(VI) chain, which impedes formation of type VI collagen. All of these COL6A3 gene mutations lead to a reduction or absence of functional collagen VI molecules. While it is difficult to predict the severity of collagen VI-related myopathy based on the type of mutation, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life.

Changes in α3(VI) chain structure or production lead to an unstable extracellular matrix that is no longer attached to cells through the basement membrane. As a result, the stability of muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.

Where is the COL6A3 gene located?

Cytogenetic Location: 2q37

Molecular Location on chromosome 2: base pairs 237,324,012 to 237,414,370

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 237,324,012 to base pair 237,414,370 on chromosome 2.

See How do geneticists indicate the location of a gene? ( 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?

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

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding COL6A3?

acids ; amino acid ; basement membrane ; basement membranes ; cell ; collagen ; congenital ; connective tissue ; extracellular ; extracellular matrix ; gene ; glycine ; joint ; molecule ; muscle cells ; muscular dystrophy ; mutation ; protein ; skeletal muscle ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30. (
  • 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. (
  • 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. (
  • Bönnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review. (
  • Bushby KM, Collins J, Hicks D. Collagen type VI myopathies. Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review. (
  • NCBI Gene (


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? ( in the Handbook.

Reviewed: October 2015
Published: November 23, 2015