该基因编码一种属于酪氨酸酶家族的黑色素体酶,在黑色素生物合成途径中起重要作用。该基因缺陷是红棕色皮肤白化病和Ⅲ型皮肤白化病的原因。[由RefSeq提供,2009年3月]
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]
基因名: | TYRP1 |
别名: | TRP,CAS2,CATB,GP75,OCA3,TRP1,TYRP,b-PROTEIN |
基因ID: | 7306 |
Chromosome: (GRCh37) | 9 Start: 12693385 End: 12710285 Strand: |
信号通路: |