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Reviewed October 2011
What is the official name of the OCA2 gene?
The official name of this gene is “OCA2 melanosomal transmembrane protein.”
OCA2 is the gene's official symbol. The OCA2 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 OCA2 gene?
The OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Although the exact function of the P protein is unknown, it is essential for normal pigmentation and is likely involved in the production of melanin. Within melanocytes, the P protein may transport molecules into and out of structures called melanosomes (where melanin is produced). Researchers believe that this protein may also help regulate the relative acidity (pH) of melanosomes. Tight control of pH is necessary for most biological processes.
How are changes in the OCA2 gene related to health conditions?
Where is the OCA2 gene located?
Cytogenetic Location: 15q
Molecular Location on chromosome 15: base pairs 27,754,873 to 28,099,340
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The OCA2 gene is located on the long (q) arm of chromosome 15.
More precisely, the OCA2 gene is located from base pair 27,754,873 to base pair 28,099,340 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OCA2?
You and your healthcare professional may find the following resources about OCA2 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 OCA2 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 OCA2?
acidity ; albinism ; cell ; chromosome ; deletion ; disability ; DNA ; gene ; melanin ; melanocytes ; mutation ; neurologic ; pH ; pigment ; pigmentation ; protein ; retina ; syndrome ; tissue ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.