rs770205298
This variant is located in the EIF2AK4 gene.
▶ClinVar annotation
About EIF2AK4
This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]
View all EIF2AK4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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