TYRP1 Antibody – Rabbit Polyclonal

TYRP1: Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized. Defects in TYRP1 are the cause of albinism oculocutaneous type 3 (OCA3); 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. Belongs to the tyrosinase family.

Protein type: Membrane protein, integral; Oxidoreductase; Amino Acid Metabolism - tyrosine; EC 1.14.18.-

Chromosomal Location of Human Ortholog: 9p23

Cellular Component: melanosome membrane; integral to membrane; melanosome; endosome membrane

Molecular Function: protein binding; protein homodimerization activity; copper ion binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen; protein heterodimerization activity

Biological Process: melanin biosynthetic process; melanosome organization and biogenesis; melanocyte differentiation; acetoacetic acid metabolic process

Disease: Albinism, Oculocutaneous, Type Iii; Skin/hair/eye Pigmentation, Variation In, 11