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MYH9基因编码功能及结构描述

2022.8.16
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zhaoqisun

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该基因编码一种传统的非肌肉肌球蛋白;该蛋白不应与非传统肌球蛋白9a或9b(myo9a或myo9b)混淆。编码蛋白是一个肌球蛋白iia重链,包含一个iq结构域和一个肌球蛋白头状结构域,它参与了包括胞质分裂、细胞运动和维持细胞形状在内的几个重要功能。该基因缺陷与非综合征性感音神经性耳聋常染色体显性遗传17型、爱泼斯坦综合征、阿尔波特综合征伴巨血小板减少、塞巴斯蒂安综合征、费克特纳综合征和巨血小板减少伴进行性感音神经性耳聋有关。[由RefSeq提供,2011年12月]

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

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