rs1415152930
This variant is located in the EIF2AK3 gene.
▶ClinVar annotation
About EIF2AK3
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]
View all EIF2AK3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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