Rabbit anti-Human BLOC1S6 Polyclonal Antibody

Uniprot Id

Q9UL45

Target Species

Human

Target Name

BLOC1S6

Target Full Name

Biogenesis of lysosome-related organelles complex 1 subunit 6

Target Function

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.

Target Involvement

Hermansky-Pudlak syndrome 9 (HPS9)

Target Subcellular Location

Cytoplasm. Membrane; Peripheral membrane protein.

Target Protein Families

BLOC1S6 family

Target Tissue Specificity

Widely expressed.

Target Synonyms

Bloc1s6; iogenesis of lysosome-related organelles complex 1 subunit 6; PA; Pallid (mouse) homolog; PALLID; Pallid protein; Pallid protein homolog; Pallidin; Pallidin homolog (mouse); PLDN; PLDN_HUMAN; Syntaxin 13 binding protein; Syntaxin 13-interacting protein

Target Background

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.