Aliases for TYRP1 Gene
External Ids for TYRP1 Gene
Previous Symbols 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 amelanotic melanoma. Among its related pathways are Metabolism and Direct p53 effectors. GO annotations related to this gene include protein homodimerization activity and copper ion binding. An important paralog of this gene is DCT.
UniProtKB/Swiss-Prot for TYRP1 Gene
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