这个基因编码六种不同的肌动蛋白中的一种。肌动蛋白是高度保守的蛋白质,参与细胞运动、结构、完整性和细胞间信号传导。编码蛋白是收缩装置的主要组成部分,也是两种广泛表达的非肌肉细胞骨架肌动蛋白之一。该基因突变导致Baraitser-Winter综合征1,其特征是人类患者的智力残疾和独特的面部外观。在整个人类基因组中,已经鉴定出许多这种基因的假基因。[由RefSeq提供,2017年8月]
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

基因名:ACTB
别名:BRWS1,PS1TP5BP1
基因ID:60
Chromosome:
(GRCh37)
7 Start: 5566779 End: 5570232 Strand: 
信号通路:  
ACTB 基因突变与药物

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