基因名：
HPS1
产品别名：
BLOC3S1； HPS； HPS1； HPS1 biogenesis of lysosomal organelles complex 3 subunit 1； HPS1 biogenesis of lysosomal organelles complex 3 subunit 1； Hermansky-Pudlak syndrome 1 protein； Hermansky-Pudlak综合征蛋白1； 赫曼斯基普德拉克综合征蛋白1(HPS1)；
背景信息：
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
