{"symbol":"MYO5A","synonyms":["MYH12","GS1","MYR12","MYO5"],"name":"myosin VA (heavy chain 12, myoxin)","description":"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) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]","ncbiEntrezGeneId":4644,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4644","proteins":[{"symbol":"MYO5A_HUMAN","href":"/api/1.0/protein/MYO5A_HUMAN"}],"hgncRootFamilies":[{"name":"Myosins (MYH, MYO)","href":"/api/1.0/gene_family/Myosins+%28MYH%2C+MYO%29"}]}