TRP1 est un gène codé par le symbole TYRP1. Il est également connu sous le nom de: 5,6-dihydroxyindole-2-carboxylic acid oxidase; DHICA oxidase; Catalase B; Glycoprotein 75; Melanoma antigen gp75; Tyrosinase-related protein 1; TRP; TYRP1; CAS2; TYRP; TYRRP. TRP1 a une masse de 60.72kDa, une longueur d'acide aminé de 537, et est impliqué dans Albinism, oculocutaneous, 3.
Nous proposons 36 des anticorps contre TRP1, élevé dans Lapin, Souris et Human, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays a role in melanin biosynthesis (PubMed:22556244, PubMed:16704458). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity).
Résumé Entrez
This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III.
Spécificité tissulaire
Pigment cells.
Implication dans la maladie
Albinism, oculocutaneous, 3: 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.
Similitudes de séquence
Belongs to the tyrosinase family.
Modification post-traductionnelle
Glycosylated.
Localisation cellulaire
Melanosome membrane. Melanosome.
Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex. Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.
