BLOC1S6 Antibody – Rabbit Polyclonal

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 9 (HPS9). A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: nucleoplasm; SNARE complex; transport vesicle; extrinsic to membrane; cytoplasm; cytosol; endosome

Molecular Function: actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding

Biological Process: positive regulation of pigment cell differentiation; secretion of lysosomal enzymes; melanosome organization and biogenesis; anterograde synaptic vesicle transport; melanocyte differentiation; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; blood coagulation; melanosome transport; positive regulation of natural killer cell activation; neurite development; synaptic vesicle docking during exocytosis

Disease: Hermansky-pudlak Syndrome 9