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Reviewed November 2007
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.
The COL1A2 gene produces a component of type I collagen called the pro-α2(I) chain. Collagens begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of three chains: two pro-α1(I) chains, which are produced from the COL1A1 gene, and one pro-α2(I) chain, which is produced from the COL1A2 gene.
After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong type I collagen fibrils, which are found in the spaces around cells.
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 94,394,560 to 94,431,231
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 94,394,560 to base pair 94,431,231 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?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.