Rabbit anti-Human BLOC1S6 Polyclonal Antibody | anti-BLOC1S6 antibody

BLOC1S6 Antibody

Cat. Num. AAA7043759

• Gene Names: BLOC1S6; PA; HPS9; PLDN; BLOS6; PALLID
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Antigen Affinity Purified
• Synonyms: BLOC1S6; Polyclonal Antibody; BLOC1S6 Antibody; Biogenesis of lysosome-related organelles complex 1 subunit 6; BLOC-1 subunit 6; Pallid protein homolog; Pallidin; Syntaxin 13-interacting protein; PA; PLDN; anti-BLOC1S6 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 172

• Applicable Applications for anti-BLOC1S6 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Species: Human
• Immunogen: Recombinant human Biogenesis of lysosome-related organelles complex 1 subunit 6 protein (N-170AA)
• Conjugate: Non-conjugated
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Western Blot (WB)

(Western blotAll lanes: BLOC1S6 antibody at 3.13 ug/mlLane 1: A431 whole cell lysateLane 2: 293T whole cell lysateSecondaryGoat polyclonal to rabbit IgG at 1/10000 dilutionPredicted band size: 20,9 kDaObserved band size: 20 kDa)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human gastric cancer using MBS7043759 at dilution of 1:100)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human pancreatic cancer using MBS7043759 at dilution of 1:100)

Related Product Information for anti-BLOC1S6 antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 6912574
• NCBI GeneID: 26258
• NCBI Accession #: NP_036520.1
• NCBI GenBank Nucleotide #: NM_012388.3
• UniProt Accession #: Q9UL45
• Molecular Weight: – Da
• NCBI Official Full Name: biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2
• NCBI Official Synonym Full Names: biogenesis of lysosomal organelles complex 1 subunit 6
• NCBI Official Symbol: BLOC1S6
• NCBI Official Synonym Symbols: PA; HPS9; PLDN; BLOS6; PALLID
• NCBI Protein Information: biogenesis of lysosome-related organelles complex 1 subunit 6
• UniProt Protein Name: Biogenesis of lysosome-related organelles complex 1 subunit 6
• UniProt Gene Name: BLOC1S6
• UniProt Synonym Gene Names: PA; PLDN; BLOC-1 subunit 6
• UniProt Entry Name: BL1S6_HUMAN

NCBI Description

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. [provided by RefSeq, Aug 2015]

Uniprot Description

PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 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. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: cytoplasm; cytosol; extrinsic to membrane; nucleoplasm; SNARE complex; transport vesicle

Molecular Function: actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding

Biological Process: anterograde axon cargo transport; anterograde synaptic vesicle transport; melanosome transport; neurite development; positive regulation of pigment cell differentiation

Disease: Hermansky-pudlak Syndrome 9