DISEASES

Disease-gene associations mined from literature

Literature associating TYRP1 and oculocutaneous albinism type IB

TYRP1 [ENSP00000373570]

5,6-dihydroxyindole-2-carboxylic acid oxidase; 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+) . May regulate or influence the type of melanin synthesized . Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity). ECO:0000269|PubMed:16704458, ECO:0000269|PubMed:22556244, ECO:0000269|PubMed:28661582, ECO:0000305|PubMed:16704458,

Synonyms:  TYRP1,  TYRP1p,  hTYRP1,  C9JZ52,  E7EQI3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM