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OCA2
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs569395077 | |||
| rs765325553 | |||
| rs61585051 | |||
| rs201554429 | |||
| rs61738394 | |||
| rs759291231 | |||
| rs779114740 | |||
| rs34385677 | |||
| rs531777637 | |||
| rs121918166 | |||
| rs1325388159 | |||
| rs137956605 | |||
| rs138065338 | |||
| rs1392180778 | |||
| rs139853866 | |||
| rs143218168 | |||
| rs143320446 | |||
| rs146795884 | |||
| rs147432138 | |||
| rs148659233 |
Find on This Page
Summary
The OCA2 gene encodes a protein called the P protein. It helps make melanin, which gives skin, hair, and eyes their color. It also plays a role in normal vision (R).
Protein names
Found in These Blog Articles
GHR Function
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.
More Information
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 [R].
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.
P protein may specifically function to transport melanin precursor molecules into and out of melanosomes, balance enzymes that aid in the production of melanin (tyrosinase), and maintain the acidity of melanosomes at a level required for melanin production [R, R].
Melanin, in turn, may play a role in a type of skin cancer called melanoma. In melanoma, DNA-damaged melanocytes divide uncontrollably [R].
Although it may offer a protective function by blocking UV rays and preventing DNA damage prior to melanoma incidence, melanin may also hinder the efficacy of therapies during the course of this disease, thereby promoting melanoma progression [R, R].
A variant of OCA2 has been associated with melanoma. Interestingly, this same variant may also alter the activity of HERC2, a neighboring gene that has been shown to regulate P protein production [R].
This variant may ultimately alter the production of P protein, leading to dysregulated melanin production and consequent disease progression [R, R, R].
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