EIF2AK3
Human protein and coding gene
From Wikipedia, the free encyclopedia
Eukaryotic translation initiation factor 2-alpha kinase 3, also known as protein kinase R (PKR)-like endoplasmic reticulum kinase (PERK), is an enzyme that in humans is encoded by the EIF2AK3 gene.[5][6][7][8]
External IDsOMIM: 604032; MGI: 1341830; HomoloGene: 3557; GeneCards: EIF2AK3; OMA:EIF2AK3 - orthologs
Function
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins.[6]
Clinical significance
Patients with mutations in this gene develop Wolcott-Rallison syndrome.[9]
Interactions
Inhibitors
- GSK2606414
- 3-Fluoro-GSK2606414