Rabbit anti-Human BLOC1S3 Polyclonal Antibody | anti-BLOC1S3 antibody

BLOC1S3, CT (BLOC1S3, BLOS3, Biogenesis of lysosome-related organelles complex 1 subunit 3) (APC)

Cat. Num. AAA6278517

• Gene Names: BLOC1S3; RP; HPS8; BLOS3
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: BLOC1S3; Polyclonal Antibody; CT (BLOC1S3; BLOS3; Biogenesis of lysosome-related organelles complex 1 subunit 3) (APC); Biogenesis of lysosome-related organelles complex 1 subunit 3; anti-BLOC1S3 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Allophycocyanin (APC).

• Applicable Applications for anti-BLOC1S3 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: BLOC1S3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 176-202 amino acids from the C-terminal region of human BLOC1S3.
• Conjugate: APC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: APC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(BLOC1S3 Antibody (C-term) western blot analysis in A2058 cell line lysates (35ug/lane).This demonstrates the BLOC1S3 antibody detected the BLOC1S3 protein (arrow).)

Related Product Information for anti-BLOC1S3 antibody

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.

Product Categories/Family for anti-BLOC1S3 antibody

Antibodies; Organelle Markers

References

Seshadri, S., et al. JAMA 303(18):1832-1840(2010). Lowe, J.K., et al. PLoS Genet. 5 (2), E1000365 (2009): Olsen, J.V., et al. Cell 127(3):635-648(2006). Morgan, N.V., et al. Am. J. Hum. Genet. 78(1):160-166(2006). Starcevic, M., et al. J. Biol. Chem. 279(27):28393-28401(2004).

NCBI and Uniprot Product Information

• NCBI GI #: 47086495
• NCBI GeneID: 388552
• NCBI Accession #: NP_997715.1
• NCBI GenBank Nucleotide #: NM_212550.3
• UniProt Accession #: Q6QNY0; B2RXB8
• Molecular Weight: 21,256 Da
• NCBI Official Full Name: biogenesis of lysosome-related organelles complex 1 subunit 3
• NCBI Official Synonym Full Names: biogenesis of lysosomal organelles complex-1, subunit 3
• NCBI Official Symbol: BLOC1S3
• NCBI Official Synonym Symbols: RP; HPS8; BLOS3
• NCBI Protein Information: biogenesis of lysosome-related organelles complex 1 subunit 3; BLOC-1 subunit 3; reduced pigmentation, mouse, homolog of; biogenesis of lysosome-related organelles complex-1, subunit 3
• UniProt Protein Name: Biogenesis of lysosome-related organelles complex 1 subunit 3
• Protein Family: Biogenesis of lysosome-related organelles complex
• UniProt Gene Name: BLOC1S3
• UniProt Synonym Gene Names: BLOS3; BLOC-1 subunit 3
• UniProt Entry Name: BL1S3_HUMAN

NCBI Description

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Uniprot Description

BLOC1S3: The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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. Belongs to the BLOC1S3 family.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: transport vesicle; cytosol

Molecular Function: protein binding

Biological Process: response to drug; platelet activation; secretion of lysosomal enzymes; platelet dense granule organization and biogenesis; pigmentation; eye development; melanosome organization and biogenesis; anterograde synaptic vesicle transport; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; melanosome transport; positive regulation of natural killer cell activation; neurite development

Disease: Hermansky-pudlak Syndrome 8