菜单 基因医生

肌动蛋白是高度保守的蛋白质,参与各种类型的细胞运动和维持细胞骨架。脊椎动物中有三种肌动蛋白,α,β和γ。α-肌动蛋白存在于肌肉组织中,是收缩装置的主要组成部分β和γ-肌动蛋白在大多数细胞类型中共存,作为细胞骨架的组成部分,并作为细胞内运动的调节剂。这个基因编码肌动蛋白γ2;在肠组织中发现的一种平滑肌肌动蛋白选择性剪接导致编码不同亚型的多个转录变体。基于与相关肌动蛋白的肽切割相似性,该基因的成熟蛋白质是通过去除两个N末端肽形成的。[由RefSeq提供,2010年12月]
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]

基因名:ACTG2
别名:ACT,ACTE,VSCM,ACTA3,ACTL3,ACTSG
基因ID:72
Chromosome:
(GRCh37)
2 Start: 74120093 End: 74146780 Strand: 
信号通路:  
ACTG2 基因突变与药物