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Reviewed November 2015
What is the official name of the COL1A2 gene?
The official name of this gene is “collagen, type I, alpha 2.”
COL1A2 is the gene's official symbol. The COL1A2 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 COL1A2 gene?
The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.
A component of type I collagen called the pro-α2(I) chain is produced from the COL1A2 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Type I collagen is composed of two pro-α1(I) chains (which are produced from the COL1A1 gene) and one pro-α2(I) chain.
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 that form stable interactions (cross-links) with one another in the spaces between cells. The cross-links result in the formation of very strong type I collagen fibers.
Does the COL1A2 gene share characteristics with other genes?
The COL1A2 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 COL1A2 gene related to health conditions?
Where is the COL1A2 gene located?
Cytogenetic Location: 7q22.1
Molecular Location on chromosome 7: base pairs 94,394,561 to 94,431,232
The COL1A2 gene is located on the long (q) arm of chromosome 7 at position 22.1.
More precisely, the COL1A2 gene is located from base pair 94,394,561 to base pair 94,431,232 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL1A2?
You and your healthcare professional may find the following resources about COL1A2 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 COL1A2 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 COL1A2?
acids ; amino acid ; cardiac ; cartilage ; cell ; collagen ; connective tissue ; elastic ; gene ; glycine ; hypermobility ; joint ; molecule ; osteogenesis ; Pro ; protein ; sclera ; syndrome ; tendon ; tissue ; trauma
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.