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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MLPH-20-RE | 20 (40 μL) | 200 μL |  |
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| MLPH-20-OR | 20 (40 μL) | 200 μL |  |
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| MLPH-20-GO | 20 (40 μL) | 200 μL |  |
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| MLPH-20-GR | 20 (40 μL) | 200 μL |  |
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| MLPH-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : MLPH
Gene Name : Melanophilin
Chromosome : CHR 2: 237,486,409-237,555,317
Locus : 2q37.3
Alt. Genes : CLEC3A
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