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| Cat.No | ACP10146 | Target Name | BLOC1S6 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 1-172 | Protein Length | Full length protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q9UL45 |
|---|
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.
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