EIF2B4 eukaryotic translation initiation factor 2B subunit delta
Gene ID: 8890, updated on 5-Mar-2024Gene type: protein coding
Also known as: VWM4; EIF2B; EIF-2B; EIF2Bdelta
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- Go to complete Gene record for EIF2B4
- Go to Variation Viewer for EIF2B4 variants
Summary
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leukoencephalopathy with vanishing white matter 4 MedGen: C5830406OMIM: 620314GeneReviews: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter | not available |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 2p23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (27364352..27370338, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EIF2B4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EIF2B4 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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