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MYO5A

Official Full Name
myosin VA (heavy chain 12, myoxin)
Background
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.
Synonyms
MYO5A; myosin VA (heavy chain 12, myoxin); MYH12, myosin VA (heavy polypeptide 12, myoxin); unconventional myosin-Va; GS1; MYO5; myosin heavy chain 12; myosin V; myosin; heavy polypeptide kinase; myoxin; MYR12; myosin-12; myosin-Va; myosin, heavy polypep; myosin VA (heavy chain 12, myosin); DILUTE; myoxin); non-muscle; myosin-V; myosin 5A; myosin heavy chain P190; myosin I heavy chain isoform; dilute myosin heavy chain, non-mus

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