MLPH
Function
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Involvement in disease
Griscelli syndrome 3
GS3
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
Alternative names
SLAC2A, MLPH, Melanophilin, Exophilin-3, Slp homolog lacking C2 domains a, Synaptotagmin-like protein 2a, SlaC2-a