Gene Symbol | EIF2AK3 |
Entrez Gene ID | 9451 |
Full Name | eukaryotic translation initiation factor 2 alpha kinase 3 |
Synonyms | PEK,PERK,WRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Wolcott-Rallison syndrome, 226980 (3) |