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Mouse Anti-BLOC1S6 Recombinant Antibody (3D2) (CBMAB-A6789-LY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
3D2
Antibody Isotype
IgG1, κ
Application
WB, E

Basic Information

Immunogen
PLDN (AAH04819, 1 a.a. ~ 172 a.a) full-length recombinant protein with GST tag.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4
Preservative
None
Concentration
Batch dependent
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6
Introduction
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]
Entrez Gene ID
26258
UniProt ID
Q9UL45
Alternative Names
PA; PALLID
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.
Biological Process
Anterograde axonal transport Source: UniProtKB
Anterograde synaptic vesicle transport Source: UniProtKB
Endosome to melanosome transport Source: UniProtKB
Intracellular transport Source: GO_Central
Melanosome organization Source: UniProtKB
Melanosome transport Source: UniProtKB
Neuron projection development Source: UniProtKB
Positive regulation of pigment cell differentiation Source: UniProtKB
Post-Golgi vesicle-mediated transport Source: Reactome
Synaptic vesicle docking Source: UniProtKB
Cellular Location
Cytoplasm; Membrane. It can exist as a soluble protein as well as a peripheral membrane protein (PubMed:12019270).
Involvement in disease
Hermansky-Pudlak syndrome 9 (HPS9): A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
PTM
Phosphorylated.
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For research use only. Not intended for any clinical use.

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