GFM1 Chromosome 3
G elongation factor mitochondrial 1
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What This Gene Does
Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
3q25.32
Ensembl
ENSG00000168827
Associated Conditions (17)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Inborn genetic diseases
GFM1-related disorder
Ovarian serous cystadenocarcinoma
Cervical cancer
Malignant tumor of esophagus
Familial pancreatic carcinoma
Gastric cancer
Lymphoma
Leigh syndrome
Relative macrocephaly
Developmental regression
Severe muscular hypotonia
Thymoma
Malignant tumor of urinary bladder
Combined oxidative phosphorylation deficiency
See cases
Key Variants
RS1023544297
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS139042191
Conflicting classifications of pathogenicity
Health Risk
RS1412836196
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS141368418
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS143446452
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS146951325
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS147620098
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS149049400
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS149454742
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS1576721522
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS1722463582
Conflicting classifications of pathogenicity
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS1725679318
Conflicting classifications of pathogenicity
Health Risk
All Variants (207)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1437640913 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1449057162 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1456835520 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1462851267 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1553847587 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1721712075 | Health Risk | Likely pathogenic | — |
| RS1721717504 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1721792587 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1725442904 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1725682836 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS200697129 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS201360324 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2108016910 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2108018519 | Health Risk | Likely pathogenic | — |
| RS2108051038 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2108102423 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473036325 | Health Risk | Likely pathogenic | — |
| RS2473037328 | Health Risk | Likely pathogenic | GFM1-related disorder, GFM1-related disorder |
| RS2473045397 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473046112 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473064132 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473064367 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473068029 | Health Risk | Likely pathogenic | — |
| RS2473935158 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473935333 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473937795 | Health Risk | Likely pathogenic | — |
| RS2473938090 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473938700 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473938735 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473938802 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473940833 | Health Risk | Likely pathogenic | — |
| RS2473940889 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473941549 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473948725 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473949063 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473949135 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473949734 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473965026 | Health Risk | Likely pathogenic | — |
| RS2473966364 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473966537 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473971829 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473985812 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473986237 | Health Risk | Likely pathogenic | — |
| RS2473993041 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2474011193 | Health Risk | Likely pathogenic | — |
| RS2474011501 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS529233762 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS747437028 | Health Risk | Likely pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS748116978 | Health Risk | Likely pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS748809628 | Health Risk | Likely pathogenic | — |