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MYO5AA gene on chromosome 15q21 that belongs to the myosin gene superfamily, and is abundantly expressed n melanocytes and neurones. The myosin 5’s (V’s) to which it belongs are a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation.
MYO5A mutations are linked to Elejalde syndrome (neuroectodermal melanolysosomal disease) and Griscelli syndrome 3.
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