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MYO5A / Myosin V 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.
Gene Name: | myosin VA (heavy chain 12, myoxin) |
Synonyms: | MYO5A, GS1, Myosin heavy chain 12, Myosin V, Myosin-12, MYO5, Myoxin, MYR12, MYH12, Myosin-Va, Unconventional myosin-Va |
Target Sequences: | NM_000259 NP_000250.3 Q9Y4I1 |
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