|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form of the disorder is characterized by skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. The mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains that cells produce. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual. Researchers believe that the abnormal collagen weakens connective tissues throughout the body, which causes the signs and symptoms of classical Ehlers-Danlos syndrome.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; collagen ; diameter ; elastic ; gene ; hypermobility ; joint ; Pro ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.