|Other Names||Hermansky-Pudlak syndrome 3 protein, HPS3|
|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||Involved in early stages of melanosome biogenesis and maturation.|
|Tissue Location||Widely expressed. Higher levels of expression are observed in kidney, liver and placenta|
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This gene encodes a protein containing a potentialclathrin-binding motif, consensus dileucine signals, andtyrosine-based sorting signals for targeting to vesicles oflysosomal lineage. The encoded protein may play a role in organellebiogenesis associated with melanosomes, platelet dense granules,and lysosomes. Mutations in this gene are associated withHermansky-Pudlak syndrome type 3. Alternate splice variants exist,but their full length sequence has not been determined. [providedby RefSeq].
Torres-Serrant, M., et al. J. Pediatr. Hematol. Oncol. 32(6):448-453(2010)Huizing, M., et al. Platelets 18(2):150-157(2007)Santiago Borrero, P.J., et al. J. Invest. Dermatol. 126(1):85-90(2006)Boissy, R.E., et al. Am. J. Pathol. 166(1):231-240(2005)Helip-Wooley, A., et al. BMC Cell Biol. 6, 33 (2005) :
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