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 Oculocutaneous Albinism. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Tyrosine metabolism. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is DCT.
UniProtKB/Swiss-Prot for TYRP1 Gene
Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin.