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GUF1

Synonyms
DEE40, EF-4, EF4, EIEE40
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
20,845
Likely benign
490
Benign
649

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GUF1 gene.

Phenotype class
Patients in 3billion (%)

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