Guinea Pig Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC1S3) ELISA Kit | BLOC1S3 elisa kit
Guinea pig Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC1S3) ELISA Kit
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; pigmentation; eye development; platelet dense granule organization and biogenesis; melanosome organization and biogenesis; anterograde synaptic vesicle transport; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; melanosome transport; neurite development; positive regulation of natural killer cell activation
Disease: Hermansky-pudlak Syndrome 8
Research Articles on BLOC1S3
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Product Notes
The Guinea Pig BLOC1S3 bloc1s3 (Catalog #AAA7213822) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7213822 ELISA Kit recognizes Guinea Pig BLOC1S3. It is sometimes possible for the material contained within the vial of "Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC1S3), ELISA Kit" 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
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