Western Blot (WB)
(Host: RabbitTarget Name: BLOC1S3Antibody Dilution: 1.0ug/mlSample Type: Human heart)
Rabbit BLOC1S3 Polyclonal Antibody | anti-BLOC1S3 antibody
BLOC1S3 antibody - N-terminal region
Western Blot (WB)
(Host: RabbitTarget Name: BLOC1S3Antibody Dilution: 1.0ug/mlSample Type: Human heart)
Western Blot (WB)
(Host: RabbitTarget Name: BLOC1S3Antibody Dilution: 1.0ug/mlSample Type: Human heart)
Target 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.
NCBI and Uniprot Product Information
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
Research Articles on BLOC1S3
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Product Notes
The BLOC1S3 bloc1s3 (Catalog #AAA3216719) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The BLOC1S3 antibody - N-terminal region reacts with Cow, Dog, Goat, Guinea Pig, Horse, Human, Mouse, Rat, Sheep, Zebrafish and may cross-react with other species as described in the data sheet. AAA Biotech's BLOC1S3 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the BLOC1S3 bloc1s3 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: Synthetic peptide located within the following region: RGRPTGLRVA GEAAETDSEP EPEPEPTAAP RDLPPLVVQR ESAEEAWGTE. It is sometimes possible for the material contained within the vial of "BLOC1S3, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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