Search Antibody, Protein, and ELISA Kit Solutions


Gene ID: 26258 | BLOC1S6 Antibody Resource


BLOC1S6 Antibody Resource
Gene Full Name: 
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Uniprot: 
Q9UL45
Protein Name: 
biogenesis of lysosome-related organelles complex 1 subunit 6
Nucleotide: 
NM_012388
Alias: 
PA;HPS9;PLDN;BLOS6;PALLID;
Ensembl: 
ENSG00000104164
Location: 
15q21.1
HPRD: 
16055
NCBI Gene: 
26258
MIM: 
604310

Summary: 
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, Jul 2008]
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.
Subcellular location: 
Cytoplasm. Endomembrane system; Peripheral membrane protein. Note: It can exist as a soluble protein as well as a peripheral membrane protein.
PTM: 
Phosphoprotein;
Disease: 
Hermansky-Pudlak syndrome 9 (HPS9) [MIM:614171]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP54890_P050 PLDN antibody - middle region (ARP54890_P050) Polyclonal Bovine, Dog, Goat, Guinea pig, Human, Mouse, Pig, Rabbit, Rat WB 50ug $289 Details
Polyclonal Antibody ARP54889_P050 PLDN antibody - N-terminal region (ARP54889_P050) Polyclonal Bovine, Dog, Human, Mouse, Pig, Rabbit, Rat WB 50ug $289 Details

Show all BLOC1S6 antibodies


Product Images
PLDN antibody - N-terminal region (ARP54889_P050) in Human PANC1 cells using Western Blot

Sample Type: Human PANC1

PLDN antibody - middle region (ARP54890_P050) in Human Jurkat cells using Western Blot

Sample Type: Human Jurkat


BLOC1S6 Protocols

Publications
Related Gene Trend Categories
Species
Tissue & Cell Line Gene Expression Data