肌球蛋白重链 10(MYH10)基因

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肌球蛋白重链 10(MYH10)基因

#肌球蛋白重链 10(MYH10)基因 | 来源: 网络整理| 查看: 265

功能概要

该基因编码肌球蛋白超家族的一个成员。该蛋白质代表常规的非肌肉肌球蛋白;它不应与非常规肌球蛋白 10 (MYO10) 混淆。肌球蛋白是肌动蛋白依赖性运动蛋白,具有多种功能,包括调节胞质分裂、细胞运动和细胞极性。该基因的突变与大脑和心脏的 May-Hegglin 异常和发育缺陷有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the Myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]



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