菜单 基因医生

该基因编码的蛋白质属于肌球蛋白超家族肌球蛋白是肌动蛋白依赖的运动蛋白，根据其可变的c末端货物结合结构域分为常规肌球蛋白（i i类）和非常规肌球蛋白（i类和iii类至xv类）。类肌球蛋白，如这一类，有一个激酶结构域N-末端到保守的N-末端运动结构域，并在感光细胞中表达。这个基因编码的蛋白质在人类的听觉中起着重要的作用。编码蛋白中三种不同的隐性、功能丧失突变已被证明可导致非综合征性进行性听力丧失。该基因的表达受到高度限制，在视网膜和耳蜗中表达最强[由RefSeq提供，2008年7月]
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]