GUF1 Chromosome 4
GTP binding elongation factor GUF1
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What This Gene Does
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]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000151806
Associated Conditions (3)
GUF1-related disorder
Developmental and epileptic encephalopathy
40
Key Variants
RS116062572
Conflicting classifications of pathogenicity
GUF1-related disorder, GUF1-related disorder
Health Risk
RS116300982
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy
Health Risk
RS1361221734
Conflicting classifications of pathogenicity
Health Risk
RS138459415
Conflicting classifications of pathogenicity
Health Risk
RS150660496
Conflicting classifications of pathogenicity
Health Risk
RS201662175
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy
Health Risk
RS561585320
Conflicting classifications of pathogenicity
Health Risk
RS747316677
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy
Health Risk
RS768606175
Conflicting classifications of pathogenicity
Health Risk
RS942299870
Conflicting classifications of pathogenicity
Health Risk
RS879255631
Pathogenic
Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116062572 | Health Risk | Conflicting classifications of pathogenicity | GUF1-related disorder, GUF1-related disorder |
| RS116300982 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy |
| RS1361221734 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138459415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150660496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201662175 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy |
| RS561585320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747316677 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy |
| RS768606175 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS942299870 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS879255631 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 40, Developmental and epileptic encephalopathy |