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; stress fiber; microtubule organizing center
Molecular Function: microtubule plus-end binding; metal ion binding; myosin V binding; actin binding; Rab GTPase binding
Biological Process: melanocyte differentiation; melanosome localization; protein targeting
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.