靶标:
MLPH
产品别名:
SLAC2-A; MLPH; melanophilin; melanophilin; melanophilin; exophilin-3; slp homolog lacking C2 domains a; synaptotagmin-like protein 2a; 黑素亲和素(MLPH); 黑色素亲和素;
背景信息:
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.