| Entrez gene ID | | 4644 |
| Official gene symbol | | MYO5A |
| Full name | | myosin VA (heavy chain 12, myoxin) |
| Aliases | | ,GS1,MYH12,MYO5,MYR12, |
| Gene 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] |
| Location | | Chromosome: 15 Locus: 15q21 |
| Gene position | | 52821247 - 52599480 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 221768 bp |
| Gene sequence |
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| OMIM ID | | 160777 |
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