TRP1 è un gene codificato dal simbolo TYRP1. È noto anche come: 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 ha una massa di 60.72kDa, una lunghezza di amminoacidi di 537, ed è implicato in Albinism, oculocutaneous, 3.
Offriamo 36 anticorpi contro TRP1, allevati nel Coniglio, Topo e Human, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano e Topo.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
Pigment cells.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the tyrosinase family.
Modifica post-translazionale
Glycosylated.
Posizione cellulare
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.
