Literature associating TYR and autosomal recessive disease
Tumor rejection antigen AB; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4- dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6- dihydroxyindole) to indole-5,6 quinone; Belongs to the tyrosinase family.
Synonyms: TYR, L8B082, P14679, Q9UMA1, Q9UMA2 ...