EIF2AK1

Chr 7AD

eukaryotic translation initiation factor 2 alpha kinase 1

Also known as: HCR, HRI, hHRI

NCBI Gene: 27102 ENSG00000086232 UniProt: Q9BQI3 OMIM: 613635

EIF2AK1 encodes a metabolic stress-sensing kinase that phosphorylates eukaryotic translation initiation factor 2 alpha in response to heme deficiency, oxidative stress, and mitochondrial dysfunction, thereby regulating protein synthesis and cellular stress responses. Mutations cause leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.71), indicating that such variants are likely pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Aug 2008]

OMIM ResearchGenerating clinical summary…