BL1S3 Rabbit Polyclonal Antibody, 20ul Vortex Mixer Multiple alternatively spliced transcript variants

Multiple alternatively spliced transcript variants have been identified in this gene

a central proline/serine rich (PS) domain

Gene Ontology (GO) annotations related to this gene include transcription factor activity

tramtrack and bric-a-brac) domain

neutrophils or macrophages

BL1S3 Rabbit Polyclonal Antibody, 20ul Vortex Mixer Multiple alternatively spliced transcript variantsThis 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.