Melanoma ist ein Gen, das durch das Symbol TYR kodiert wird. Im Allgemeinen auch bezeichnet als: Tyrosinase; LB24-AB; Monophenol monooxygenase; SK29-AB; Tumor rejection antigen AB; TYR. Melanoma hat eine Masse von 60.39kDa, eine Aminosäurelänge von 529, und ist an folgenden Krankheiten beteiligt: Albinism, oculocutaneous, 1A; Albinism, oculocutaneous, 1B.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Rolle bei Krankheiten
Albinism, oculocutaneous, 1A: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Albinism, oculocutaneous, 1B: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.
Sequenzähnlichkeiten
Belongs to the tyrosinase family.
Posttranslationale Modifikation
Glycosylated.
Zellort
Melanosome membrane. Melanosome.
Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.
