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Reviewed November 2015
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 type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles.
A component of type V collagen called the pro-α1(V) chain is produced from the COL5A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains or two pro-α1(V) chains and one pro-α2(V) chain (which is produced from the COL5A2 gene).
The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils. Studies suggest that type V collagen also controls the assembly of other types of collagen into fibrils in several tissues.
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?
Where is the COL5A1 gene located?
Cytogenetic Location: 9q34.2-q34.3
Molecular Location on chromosome 9: base pairs 134,641,786 to 134,844,843
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 134,641,786 to base pair 134,844,843 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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.