Aliases for BLOC1S6 Gene
External Ids for BLOC1S6 Gene
Previous HGNC Symbols for BLOC1S6 Gene
Previous GeneCards Identifiers for BLOC1S6 Gene
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]
GeneCards Summary for BLOC1S6 Gene
BLOC1S6 (Biogenesis Of Lysosomal Organelles Complex-1, Subunit 6, Pallidin) is a Protein Coding gene. Diseases associated with BLOC1S6 include hermansky-pudlak syndrome 9 and platelet storage pool deficiency. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. GO annotations related to this gene include protein homodimerization activity and actin filament binding.
UniProtKB/Swiss-Prot for BLOC1S6 Gene
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.