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Reviewed June 2011
What is the official name of the COL8A2 gene?
The official name of this gene is “collagen, type VIII, alpha 2.”
COL8A2 is the gene's official symbol. The COL8A2 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 COL8A2 gene?
The COL8A2 gene provides instructions for making a component of type VIII collagen called alpha 2(VIII) collagen. Type VIII collagen is largely found within the front surface of the eye, called the cornea. Type VIII collagen is a major component of Descemet's membrane, which is a tissue at the back of the cornea. This membrane is a thin, sheet-like structure that separates and supports corneal endothelium cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision.
To construct type VIII collagen, one subunit of the alpha 2(VIII) collagen protein interacts with two subunits of another protein called alpha 1(VIII) collagen. These three proteins twist together to form a triple-stranded, rope-like molecule known as procollagen. Procollagen molecules are secreted by the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type VIII collagen.
How are changes in the COL8A2 gene related to health conditions?
Where is the COL8A2 gene located?
Cytogenetic Location: 1p34.2
Molecular Location on chromosome 1: base pairs 36,560,839 to 36,591,304
The COL8A2 gene is located on the short (p) arm of chromosome 1 at position 34.2.
More precisely, the COL8A2 gene is located from base pair 36,560,839 to base pair 36,591,304 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL8A2?
You and your healthcare professional may find the following resources about COL8A2 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 COL8A2 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 COL8A2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.