靶标：
Bloc1s3
产品别名：
BC043666； Blos3； E230011O18； rp； Bloc1s3； biogenesis of lysosomal organelles complex-1, subunit 3； biogenesis of lysosomal organelles complex-1, subunit 3； biogenesis of lysosome-related organelles complex 1 subunit 3； Bloc-1 complex component； Bloc1 subunit 3； biogenesis of lysosome-related organelles complex-1, subunit 3； reduced pigmentation protein；
背景信息：
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008],
