BLOC1S3 Antibody – Rabbit Polyclonal

BLOC1S3: The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Belongs to the BLOC1S3 family.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: transport vesicle; cytosol

Molecular Function: protein binding

Biological Process: response to drug; platelet activation; secretion of lysosomal enzymes; platelet dense granule organization and biogenesis; pigmentation; eye development; melanosome organization and biogenesis; anterograde synaptic vesicle transport; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; melanosome transport; positive regulation of natural killer cell activation; neurite development

Disease: Hermansky-pudlak Syndrome 8