Aliases for TYRP1 Gene
External Ids for TYRP1 Gene
Previous HGNC Symbols for TYRP1 Gene
Previous GeneCards Identifiers for TYRP1 Gene
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. [provided by RefSeq, Mar 2009]
GeneCards Summary for TYRP1 Gene
TYRP1 (Tyrosinase Related Protein 1) is a Protein Coding gene. Diseases associated with TYRP1 include Albinism, Oculocutaneous, Type Iii and Skin/Hair/Eye Pigmentation, Variation In, 11. Among its related pathways are Metabolism and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is DCT.
UniProtKB/Swiss-Prot Summary for TYRP1 Gene
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).