|Other Names||Melanophilin, Exophilin-3, Slp homolog lacking C2 domains a, SlaC2-a, Synaptotagmin-like protein 2a, MLPH, SLAC2A|
|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||Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.|
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This gene encodes a member of the exophilin subfamily ofRab effector proteins. The protein forms a ternary complex with thesmall Ras-related GTPase Rab27A in its GTP-bound form and the motorprotein myosin Va. A similar protein complex in mouse functions totether pigment-producing organelles called melanosomes to the actincytoskeleton in melanocytes, and is required for visiblepigmentation in the hair and skin. A mutation in this gene resultsin Griscelli syndrome type 3, which is characterized by asilver-gray hair color and abnormal pigment distribution in thehair shaft. Several alternatively spliced transcript variants ofthis gene have been described, but the full-length nature of someof these variants has not been determined.
Park, J.W., et al. J. Med. Genet. 43(7):598-608(2006)Seabra, M.C., et al. Traffic 5(6):393-399(2004)Fukuda, M., et al. J. Cell. Sci. 117 (PT 4), 583-591 (2004) :Lukusa, T., et al. Genet. Couns. 15(3):293-301(2004)Menasche, G., et al. J. Clin. Invest. 112(3):450-456(2003)
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