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.
References for Anti-TRP1 antibody [TA99] (ab80781)
This product has been referenced in:
Welt S et al. Monoclonal antibody to an intracellular antigen images human melanoma transplants in nu/nu mice. Proc Natl Acad Sci U S A84:4200-4 (1987).
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Thomson TM et al. Pigmentation-associated glycoprotein of human melanomas and melanocytes: definition with a mouse monoclonal antibody. J Invest Dermatol85:169-74 (1985).
Read more (PubMed: 3926906) »