MLPH Peptide - C-Terminal Region Blocking Peptide

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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

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.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: cortical actin cytoskeleton; perinuclear region of cytoplasm; dendrite; 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

Disease: Griscelli Syndrome, Type 3