Entrez gene ID | | 79083 |
Official gene symbol | | MLPH |
Full name | | melanophilin |
Aliases | | ,MGC2771,MGC59733,SLAC2-A, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2q37.3 |
Gene position | | 238395878 - 238463961 Map Viewer |
Gene orientation | | plus |
Gene size | | 68084 bp |
Gene sequence |
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OMIM ID | | 606526 |
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