EIF2B1 eukaryotic translation initiation factor 2B subunit alpha
Gene ID: 1967, updated on 5-Mar-2024Gene type: protein coding
Also known as: VWM1; EIF2B; EIF2BA; EIF2Balpha
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- Go to complete Gene record for EIF2B1
- Go to Variation Viewer for EIF2B1 variants
Summary
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leukoencephalopathy with vanishing white matter 1 MedGen: C5779972OMIM: 603896GeneReviews: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter | See labs |
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (123620406..123633686, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EIF2B1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EIF2B1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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