Reactivities: | Human |
Presku: | AAP65298 |
Size: | 100ug |
Weight: | 21kDa |
Gene: | 388552 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | BLOS3; FLJ26641; FLJ26676; HPS8; RP |