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Reviewed December 2013
What is the official name of the COL4A4 gene?
The official name of this gene is “collagen, type IV, alpha 4.”
COL4A4 is the gene's official symbol. The COL4A4 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 COL4A4 gene?
The COL4A4 gene provides instructions for making one component of type IV collagen, which is a flexible protein. Specifically, this gene makes the alpha4(IV) chain of type IV collagen. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha5 chains) to make a complete type IV collagen molecule. Type IV collagen molecules attach to each other to form complex protein networks. These networks make up a large portion of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen alpha3-4-5 networks play an especially important role in the basement membranes of the kidney, inner ear, and eye.
How are changes in the COL4A4 gene related to health conditions?
Where is the COL4A4 gene located?
Cytogenetic Location: 2q35-q37
Molecular Location on chromosome 2: base pairs 226,968,915 to 227,164,558
The COL4A4 gene is located on the long (q) arm of chromosome 2 between positions 35 and 37.
More precisely, the COL4A4 gene is located from base pair 226,968,915 to base pair 227,164,558 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL4A4?
You and your healthcare professional may find the following resources about COL4A4 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 COL4A4 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 COL4A4?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.