菜单 基因医生

这个基因编码肌球蛋白超家族的一个成员该蛋白代表传统的非肌肉肌球蛋白;不应与非传统肌球蛋白-14(MYO14)混淆肌球蛋白是肌动蛋白依赖的运动蛋白,具有多种功能,包括调节胞质分裂、细胞运动和细胞极性。该基因突变导致一种常染色体显性遗传性听力损伤。已发现该基因编码不同亚型的多个转录变体。[由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-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

基因名:MYH14
别名:DFNA4,MHC16,MYH17,PNMHH,DFNA4A,myosin,FP17425,NMHCII-C,NMHC-II-C
基因ID:79784
Chromosome:
(GRCh37)
19 Start: 50706885 End: 50813801 Strand: 
信号通路:  
MYH14 基因突变与药物