Gene TYRP1
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Also known as
Tyrosinase-related protein 1, TRP1, OCA3, TYRP, GP75Overview
TYRP1 (Tyrosinase-Related Protein 1) encodes an enzyme involved in melanin biosynthesis within melanocytes. While structurally similar to tyrosinase, TYRP1 has distinct catalytic activities and plays a crucial role in stabilizing tyrosinase and regulating eumelanin (brown-black pigment) production. The protein functions primarily as a 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase, influencing the balance between different melanin types and overall pigmentation quality.Mutations in TYRP1 cause oculocutaneous albinism type 3 (OCA3), a rare form of albinism characterized by reduced pigmentation that is generally milder than other OCA types. Affected individuals typically have light brown or reddish hair, light skin that may tan, and hazel or brown eyes. Visual abnormalities associated with albinism, including reduced visual acuity and nystagmus, are present but often less severe than in other forms. OCA3 is most commonly observed in individuals of African descent.
Beyond albinism, natural variants in TYRP1 contribute to normal variation in skin, hair, and eye color across populations. The gene has been associated with differences in tanning ability, age-related skin changes, and melanoma risk. Understanding TYRP1 genetics can inform personalized skincare recommendations and UV protection strategies.