ab94249 is a 293T cell transfected lysate in which Human Melanophilin has been transiently over-expressed using a pCMV-Melanophilin plasmid. The lysate is provided in 1X Sample Buffer. Note: For more detailed how the transfected lysate was prepared view preparation notes
Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Disease: Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
Similarity: Contains 1 FYVE-type zinc finger.
Contains 1 RabBD (Rab-binding) domain.