MLPH | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | MLPH , SLAC2-A, melanophilin | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606526; MGI: 2176380; HomoloGene: 11465; GeneCards: MLPH; OMA:MLPH - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. [5] [6] 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.
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. [7] 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. [8]
In melanocytic cells MLPH gene expression may be regulated by MITF. [9]
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.
Mutations in melanophilin cause the "dilute" coat color phenotype in dogs [10] and cats. [11] Variation in this gene appears to have been a target for recent natural selection in humans, and it has been hypothesized that this is due to a role in human pigmentation. [12]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.