MYO5A

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined.

Full Name

MYOSIN VA

Function

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Biological Process

Actin filament-based movement Source: UniProtKB
Actin filament organization Source: GO_Central
Cellular response to insulin stimulus Source: UniProtKB
Melanosome transport Source: UniProtKB
Post-Golgi vesicle-mediated transport Source: UniProtKB
Protein localization to plasma membrane Source: UniProtKB
Protein transport Source: UniProtKB-KW
Vesicle-mediated transport Source: UniProtKB
Vesicle transport along actin filament Source: UniProtKB

Cellular Location

Cytoskeleton
Actin cytoskeleton Source: GO_Central
Myosin complex Source: UniProtKB-KW
Cytosol
Cytosol Source: UniProtKB
Extracellular region or secreted
Extracellular exosome Source: UniProtKB
Other locations
Cytoplasm Source: UniProtKB
Filopodium tip Source: UniProtKB
Growth cone Source: UniProtKB
Insulin-responsive compartment Source: UniProtKB
Melanosome Source: UniProtKB
Membrane Source: UniProtKB
Neuron projection Source: UniProtKB
Ruffle

Involvement in disease

Griscelli syndrome 1 (GS1):
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities.
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.
Elejalde syndrome (ELEJAS):
Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.