该BLOC1S3 Polyclonal Antibody. 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.
应用类型
IHC,IF
免疫原
Recombinant fusion protein of human BLOC1S3 (NP_997715.1).
