Reactivities: | Human |
Presku: | AAP59494 |
Size: | 100ug |
Weight: | 66kDa |
Gene: | 79083 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | MGC2771; MGC59733; SLAC2-A |