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MLPH Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3). 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 2q37.3
Cellular Component: cortical actin cytoskeleton; dendrite; perinuclear region of cytoplasm
Molecular Function: actin binding; metal ion binding; myosin binding; protein binding; Rab GTPase binding
Biological Process: intracellular protein transport; vesicle transport along actin filament
Disease: Griscelli Syndrome, Type 3
Reference #:  Q9BV36 (UniProtKB)
Alt. Names/Synonyms: Exophilin-3; Melanophilin; MELPH; MGC2771; MGC59733; MLPH; SlaC2-a; SLAC2A; Slp homolog lacking C2 domains a; Synaptotagmin-like protein 2a
Gene Symbols: MLPH
Molecular weight: 65,949 Da
Basal Isoelectric point: 5.73  Predict pI for various phosphorylation states
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