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. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
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 Vesicle-mediated transport 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.