Gene: EIF2AK1

Alternate names for this Gene: HCR|HRI|LEMSPAD|hHRI

Gene Summary: The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: eukaryotic translation initiation factor 2 alpha kinase 1

Type of Gene: protein-coding

rs10263017 in EIF2AK1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs10254125 in EIF2AK1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10254125 in EIF2AK1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.