菜单 基因医生

传统的驱动蛋白是由两条重链和两条轻链组成的四聚体分子,沿着微管向其正末端运输各种货物重链提供动力活动,轻链则绑定各种货物。这个基因编码一个驱动蛋白轻链家族的成员它通过一个N端结构域与运动蛋白重链相关,六个四肽重复序列(TPR)被认为参与了囊泡、线粒体和高尔基复合体等货物的结合因此,驱动蛋白轻链的功能作为适配器分子,而不是马达本身尽管先前命名为“驱动蛋白2”,但该基因不是驱动蛋白运动蛋白的驱动蛋白2/驱动蛋白重链亚家族的成员。广泛的选择性剪接产生具有不同c-末端的亚型,这些亚型被提议结合到不同的货物上;然而,大多数这些变体的全长性质和/或生物学有效性尚未确定。[由RefSeq提供,2008年7月]
Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]

基因名:KLC1
别名:KLC,KNS2,KNS2A
基因ID:3831
Chromosome:
(GRCh37)
14 Start: 104095525 End: 104167888 Strand: 
信号通路:  
KLC1 基因突变与药物