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EIF2AK3
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.
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.
Clinical significance
Patients with mutations in this gene develop Wolcott-Rallison syndrome.
Interactions
EIF2AK3 has been shown to interact with DNAJC3, NFE2L2, and endoplasmic reticulum chaperone BiP (Hsp70).
Inhibitors
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