Aliases for MLPH Gene
External Ids for MLPH Gene
Previous GeneCards Identifiers 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 Osteogenesis Imperfecta, Type Xv. 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 myosin 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.