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COL5A2

COL5A2

Reviewed May 2006

What is the official name of the COL5A2 gene?

The official name of this gene is “collagen, type V, alpha 2.”

COL5A2 is the gene's official symbol. The COL5A2 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 COL5A2 gene?

The COL5A2 gene provides instructions for making a component of collagen. Collagens form a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, muscles, and the space between cells and tissues called the extracellular matrix. The COL5A2 gene produces a component of type V collagen, called the pro-alpha2(V) chain. One pro-alpha2(V) chain combines with two pro-alpha1(V) chains (produced by the COL5A1 gene) to form type V procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell. Once these molecules are processed, they arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-links result in the formation of very strong, mature type V collagen fibers. Type V collagen also plays a role in assembling other types of collagen into fibrils within many connective tissues.

Does the COL5A2 gene share characteristics with other genes?

The COL5A2 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 COL5A2 gene related to health conditions?

Ehlers-Danlos syndrome - caused by mutations in the COL5A2 gene

Mutations in the COL5A2 gene have been identified in a small number of patients with classic Ehlers-Danlos syndrome. These mutations change the structure and function of the pro-alpha2(V) chain. As a result, type V collagen fibrils in the skin that are assembled with the altered protein are large and irregular. Researchers believe that these changes in collagen structure cause the signs and symptoms of classic Ehlers-Danlos syndrome.

Where is the COL5A2 gene located?

Cytogenetic Location: 2q14-q32

Molecular Location on chromosome 2: base pairs 189,031,914 to 189,179,878

The COL5A2 gene is located on the long (q) arm of chromosome 2 between positions 14 and 32.

The COL5A2 gene is located on the long (q) arm of chromosome 2 between positions 14 and 32.

More precisely, the COL5A2 gene is located from base pair 189,031,914 to base pair 189,179,878 on chromosome 2.

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

Where can I find additional information about COL5A2?

You and your healthcare professional may find the following resources about COL5A2 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 COL5A2 gene or gene products?

  • AB collagen
  • CO5A2_HUMAN
  • collagen, fetal membrane, A polypeptide
  • Collagen V, alpha-2 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 COL5A2?

cell ; collagen ; cross-link ; extracellular ; extracellular matrix ; gene ; Pro ; protein ; syndrome

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: May 2006
Published: September 29, 2014