Aliases for MLPH Gene
External Ids for MLPH Gene
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. [provided by RefSeq, Jul 2013]
GeneCards Summary for MLPH Gene
MLPH (Melanophilin) is a Protein Coding gene. Diseases associated with MLPH include griscelli syndrome, type 3 and piebaldism. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include actin binding and microtubule plus-end binding. An important paralog of this gene is MYRIP.
UniProtKB/Swiss-Prot for MLPH Gene
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.