EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1

Gene ID: 27102, updated on 28-Oct-2024
Gene type: protein coding
Also known as: HCR; HRI; hHRI; LEMSPAD

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. [provided by RefSeq, Aug 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome MedGen: C5394371OMIM: 618878GeneReviews: Not available	See labs

Genomic context

Location:: 7p22.1

Sequence:: Chromosome: 7; NC_000007.14 (6022247..6059175, complement)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for EIF2AK1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.