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Reviewed October 2015

What is the official name of the COL6A1 gene?

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.

Read more about gene names and symbols on the About page.

What is the normal function of the COL6A1 gene?

The COL6A1 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 COL6A1 gene is the alpha(α)1(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 COL6A1 gene share characteristics with other genes?

The COL6A1 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 COL6A1 gene related to health conditions?

collagen VI-related myopathy - caused by mutations in the COL6A1 gene

Mutations in the COL6A1 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 α1(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α1(VI) chain. Other mutations can also disrupt the structure of the α1(VI) chain.

Mutations in the COL6A1 gene affect type VI collagen in different ways. Some mutations lead to altered α1(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 α1(VI) chain, which impedes formation of type VI collagen. All of these COL6A1 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 α1(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 COL6A1 gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 45,981,749 to 46,005,049

The COL6A1 gene is located on the long (q) arm of chromosome 21 at position 22.3.

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 45,981,749 to base pair 46,005,049 on chromosome 21.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about COL6A1?

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.

What other names do people use for the COL6A1 gene or gene products?

  • alpha 1 (VI) chain (61 AA)
  • collagen alpha-1(VI) chain
  • collagen VI, alpha-1 polypeptide

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding COL6A1?

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.

See also Understanding Medical Terminology.

References (8 links)


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