基因注释：HPS6
官方信息
官方名称：HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
功能摘要：This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].
作为靶基因的剪接因子
关联疾病
该基因暂无关联疾病记录