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.
Immunogen Information
Immunogen
Fusion protein of human BLOC1S6
Swissprot
Q9UL45
Synonyms
Bloc1s6iogenesis of lysosome-related organelles complex 1 subunit 6PAPallid (mouse) homologPALLIDPallid proteinPallid protein homologPallidinPallidin homolog (mouse)PLDNPLDNSyntaxin 13 binding proteinSyntaxin 13-interacting protein