Gene OCA2
Back to Curriculum
Also known as
OCA2 melanosomal transmembrane protein, P protein, oculocutaneous albinism type 2Overview
OCA2 (OCA2 Melanosomal Transmembrane Protein) encodes a melanosomal membrane protein involved in melanin synthesis. The protein regulates the pH of melanosomes, which is critical for proper tyrosinase activity and melanin production. OCA2 is one of the major genetic determinants of human skin, hair, and eye color variation.Biallelic loss-of-function mutations in OCA2 cause oculocutaneous albinism type 2, the most common form of albinism worldwide. Affected individuals have reduced pigmentation in skin, hair, and eyes, along with visual impairment. Common OCA2 variants in the general population strongly influence eye color, with certain alleles associated with blue or brown eyes.
Understanding your OCA2 genetic status provides insights into pigmentation and melanin synthesis capacity. This information is relevant for understanding skin type, UV sensitivity, eye color genetics, and carrier status for oculocutaneous albinism type 2.