Aliases for MYO5A Gene
External Ids for MYO5A Gene
Previous HGNC Symbols for MYO5A Gene
Previous GeneCards Identifiers for MYO5A Gene
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. [provided by RefSeq, Dec 2008]
GeneCards Summary for MYO5A Gene
MYO5A (Myosin VA (Heavy Chain 12, Myoxin)) is a Protein Coding gene. Diseases associated with MYO5A include griscelli syndrome, type 1 and griscelli syndrome. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is MYO7A.
UniProtKB/Swiss-Prot for MYO5A Gene
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.