GUF1 GTP binding elongation factor GUF1
Gene ID: 60558, updated on 5-Mar-2024Gene type: protein coding
Also known as: EF4; EF-4; DEE40; EIEE40
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- Go to complete Gene record for GUF1
- Go to Variation Viewer for GUF1 variants
Summary
This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Associated conditions
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Description | Tests |
---|---|
Developmental and epileptic encephalopathy, 40 | See labs |
Genomic context
- Location:
- 4p12
- Sequence:
- Chromosome: 4; NC_000004.12 (44678420..44700928)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GUF1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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