|Other Names||Biogenesis of lysosome-related organelles complex 1 subunit 5, BLOC-1 subunit 5, Protein Muted homolog, BLOC1S5, MUTED|
|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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This gene encodes a component of BLOC-1 (biogenesis oflysosome-related organelles complex 1). Components of this complexare involved in the biogenesis of organelles such as melanosomesand platelet-dense granules. A mouse model for Hermansky-PudlakSyndrome is mutated in the murine version of this gene. Alternativesplicing results in multiple transcript variants. Read-throughtranscription exists between this gene and the upstream EEF1E1(eukaryotic translation elongation factor 1 epsilon 1) gene, aswell as with the downstream TXNDC5 (thioredoxin domain containing5) gene.
Morris, D.W., et al. Biol. Psychiatry 63(1):24-31(2008)Oh, J.H., et al. Mamm. Genome 16(12):942-954(2005)Starcevic, M., et al. J. Biol. Chem. 279(27):28393-28401(2004)Li, W., et al. Nat. Genet. 35(1):84-89(2003)Ciciotte, S.L., et al. Blood 101(11):4402-4407(2003)
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