|Other Names||Biogenesis of lysosome-related organelles complex 1 subunit 3, BLOC-1 subunit 3, BLOC1S3, BLOS3|
|Target/Specificity||The synthetic peptide sequence is selected from aa 191-202 of HUMAN BLOC1S3|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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. Plays a role in intracellular vesicle trafficking.|
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Provided below are standard protocols that you may find useful for product applications.
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.
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)
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