Gene Symbol | TYRP1 |
Entrez Gene ID | 7306 |
Full Name | tyrosinase related protein 1 |
Synonyms | CAS2,CATB,GP75,OCA3,TRP,TRP1,TYRP,b-PROTEIN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Albinism, oculocutaneous, type III, 203290 (3); [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3) |