Synonyms: non-muscle,Dilute myosin heavy chain,GS1,MYH12,MYO5,Myo5a,MYO5A,Myosin heavy chain 12,Myosin heavy polypeptide kinase,Myosin V,Myosin VA (heavy polypeptide 12 myoxin) ,Myosin VA (heavy polypeptide 12 myoxin),Myosin-12,Myoxin,MYR12,Unconventional myosin-Va
Background: 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.