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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MYO5A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4644
Official gene symbolMYO5A
Full namemyosin VA (heavy chain 12, myoxin)
Aliases,GS1,MYH12,MYO5,MYR12,
Gene summaryThis 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]
LocationChromosome: 15   Locus: 15q21
Gene position52821247 - 52599480  Map Viewer
Gene orientationminus
Gene size221768 bp
Gene sequence
OMIM ID160777