Oca2

OCA2

OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15. OCA2 gene is officially called oculocutaneous albinism II. The gene used to be referred to as the P gene. It provides instructions for making the protein called P protein which is located in melanocytes which are specialized cells that produce melanin. Melanin is responsible for giving color to the skin, hair, and eyes. Moreover, melanin is found in the light-sensitive tissue of the retina of the eye which plays a role in normal vision. The exact function of protein P is unknown, but it has been found that it is essential for the normal coloring of skin, eyes, and hair; and likely involved in melanin production. This gene seems to be the main determinant of eye color depending on the amount of melanin production in the stroma of the iris (large amounts giving rise to brown eyes; little to no melanin giving rise to blue eyes). Mutations in the OCA2 gene cause a disruption in the normal production of melanin; therefore, causing vision problems and reductions in hair, skin, and eye color. Oculocutaneous albinism is a health condition caused by mutations in the OCA2 gene. Other diseases associated with the deletion of OCA2 gene are Angelman syndrome (light-colored hair and fair skin) and Prader-Willi syndrome (unusually light-colored hair and fair skin). With both these syndromes, the deletion often occurs in individuals with either syndrome.