EIF2AK3基因突变与药物因子介绍

由该基因编码的蛋白质磷酸化真核生物翻译起始因子2的α亚单位，导致其失活，从而迅速减少翻译起始和抑制全球蛋白质合成这种蛋白质被认为可以调节线粒体功能。它是一种位于内质网（er）的i型膜蛋白，由畸形蛋白引起的内质网应激引起。该基因突变与沃尔科特-拉利森综合征有关。[由RefSeq提供，2015年9月]
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]