MLPH
melanophilin
Synonyms:
SLAC2-A
Species:
Human MLPH (79083), Mouse Mlph (171531), Rat Mlph (316620), domestic cat MLPH (780791), dog MLPH (607077), chicken MLPH (424019), sheep MLPH (100272215), cow MLPH (531343), Horse MLPH (100066385), naked mole-rat Mlph (101717864)
UniProtKB ID:
Gene ID:
- Human(79083) Summary: 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 of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
- Mouse(171531) melanophilin
- Rat(316620) melanophilin
- domestic cat(780791) melanophilin
- dog(607077) melanophilin
- chicken(424019) melanophilin
- sheep(100272215) melanophilin
- cow(531343) melanophilin
- Horse(100066385) melanophilin
- naked mole-rat(101717864) melanophilin
- domestic guinea pig(100716386) melanophilin
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