基因名：
MYO5A
产品别名：
GS1； MYH12； MYO5； MYR12； MYO5A； myosin VA； myosin VA； unconventional myosin-Va； dilute myosin heavy chain, non-muscle； myosin V； myosin VA (heavy chain 12, myoxin)； myosin, heavy polypeptide kinase； myosin-12； myosin-Va； myoxin； 肌球蛋白5A； 肌球蛋白ⅤA(MYO5A)；
背景信息：
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, Dec 2008]
