MYO5A, Official Symbol MYO5Aprovided by HGNC Official Full Name myosin VAprovided by HGNC Primary source HGNC:HGNC:7602 See related Ensembl:ENSG00000197535 MIM:160777; AllianceGenome:HGNC:7602 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GS1; MYO5; MYH12; MYR12 Summary 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] Expression Broad expression in brain (RPKM 28.8), skin (RPKM 5.7) and 20 other tissues See more Orthologs mouse all