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MLPH / Melanophilin
melanophilin
MLPH / Melanophilin is 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.
| Gene Name: | melanophilin |
| Synonyms: | MLPH, Exophilin-3, L1Rk3, Ln, L(1)-3Rk, Slac-2a, SLAC2-A, Synaptotagmin-like protein 2a, Melanophilin, SLAC2A |
| Target Sequences: | NM_024101 NP_077006.1 Q9BV36 |
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