Melanophilin (MLPH) is a member of the exophilin subfamily of Rab effector proteins. MLPH is a modular protein, forming a ternary complex with the small Rasrelated GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. It regulates reten on of melanosomes at the peripheral ac n cytoskeleton of melanocytes, a process essen al for normal mammalian pigmenta on. Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3), which is characterized by a silver-gray hair color and abnormal pigment distribu on in the hair sha>.
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Deregulation of Rab and Rab Effector Genes in Bladder Cancer
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