MYO5A


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MYO5A

A 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.

Molecular pathology
MYO5A mutations are linked to Elejalde syndrome (neuroectodermal melanolysosomal disease) and Griscelli syndrome 3.
References in periodicals archive ?
Evidence that Griscelli syndrome with neurological involvement is caused by mutation in RAB27A not MYO5A. Am J Hum Genet.
The genetic defects commonly involving MYO5A, RAB27A genes (6).
Three specific sequences of small interfering RNA (siRNA) targeting different regions of rat MYO5a mRNA sequence were designed (RiboBio Co., Ltd, China.
Kromozom 15q21 uzerinde MYO5A geninden 1.6 cM'den daha az uzakta localize Rab27a (RAB27A) geninde mutasyon sonucu olusur.