Involvement in diseaseDefects in TYRP1 are the cause of albinism oculocutaneous type 3 (OCA3) [MIM:203290]; also known as Rufous oculocutaneous albinism. An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair.
Sequence similaritiesBelongs to the tyrosinase family.