This gene encodes a member of the exophilin subfamily ofnRab effector proteins. The protein forms a ternary complex with thensmall Ras-related GTPase Rab27A in its GTP-bound form and the motornprotein myosin Va. A similar protein complex in mouse functions tontether pigment-producing organelles called melanosomes to the actinncytoskeleton in melanocytes, and is required for visiblenpigmentation in the hair and skin. A mutation in this gene resultsnin Griscelli syndrome type 3, which is characterized by ansilver-gray hair color and abnormal pigment distribution in thenhair shaft. Several alternatively spliced transcript variants ofnthis gene have been described, but the full-length nature of somenof these variants has not been determined.
应用类型
WB
免疫原
This MLPH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 541-569 amino acids from the C-terminal region of human MLPH.
