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COL5A1

COL5A1

Reviewed May 2006

What is the official name of the COL5A1 gene?

The official name of this gene is “collagen, type V, alpha 1.”

COL5A1 is the gene's official symbol. The COL5A1 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 COL5A1 gene?

The COL5A1 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 COL5A1 gene produces a component of type V collagen, called the pro-alpha1(V) chain. Three of these chains combine to make a molecule of type V procollagen. Alternatively, two of these chains can also combine with one pro-alpha2(V) chain (produced by the COL5A2 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 and is essential for the formation of normal type I collagen fibrils.

Does the COL5A1 gene share characteristics with other genes?

The COL5A1 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 COL5A1 gene related to health conditions?

Ehlers-Danlos syndrome - caused by mutations in the COL5A1 gene

More than 50 percent of cases of classical Ehlers-Danlos syndrome are caused by mutations in the COL5A1 gene. Many of these mutations lead to a nonfunctional or absent pro-alpha1(V) chain. As a result, type V collagen fibrils in the skin and other tissues cannot be assembled correctly. The fibrils are disorganized and larger than usual. Researchers have not determined precisely how these changes in collagen structure cause the signs and symptoms of classical Ehlers-Danlos syndrome.

Where is the COL5A1 gene located?

Cytogenetic Location: 9q34.2-q34.3

Molecular Location on chromosome 9: base pairs 134,641,804 to 134,844,842

The COL5A1 gene is located on the long (q) arm of chromosome 9 between positions 34.2 and 34.3.

The COL5A1 gene is located on the long (q) arm of chromosome 9 between positions 34.2 and 34.3.

More precisely, the COL5A1 gene is located from base pair 134,641,804 to base pair 134,844,842 on chromosome 9.

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

Where can I find additional information about COL5A1?

You and your healthcare professional may find the following resources about COL5A1 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 COL5A1 gene or gene products?

  • alpha 1 type V collagen preproprotein
  • CO5A1_HUMAN

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 COL5A1?

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

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

See also Understanding Medical Terminology.

References (10 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: December 16, 2014