GFM2 Chromosome 5
GTP dependent ribosome recycling factor mitochondrial 2
Upload your DNA to see your personal genotypes for variants in GFM2.
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, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000164347
Associated Conditions (5)
Inborn genetic diseases
Combined oxidative phosphorylation deficiency 39
GFM2-related disorder
Mitochondrial disease
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Key Variants
RS138670775
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139901493
Conflicting classifications of pathogenicity
Health Risk
RS140077535
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 39, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 39
Health Risk
RS142425196
Conflicting classifications of pathogenicity
GFM2-related disorder, GFM2-related disorder
Health Risk
RS142986380
Conflicting classifications of pathogenicity
Inborn genetic diseases, GFM2-related disorder, Inborn genetic diseases
Health Risk
RS143233751
Conflicting classifications of pathogenicity
Health Risk
RS184732617
Conflicting classifications of pathogenicity
Health Risk
RS2478868062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369071633
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
Health Risk
RS543482000
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752145775
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757683184
Conflicting classifications of pathogenicity
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138670775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139901493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140077535 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 39, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 39 |
| RS142425196 | Health Risk | Conflicting classifications of pathogenicity | GFM2-related disorder, GFM2-related disorder |
| RS142986380 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GFM2-related disorder, Inborn genetic diseases |
| RS143233751 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184732617 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2478868062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369071633 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |
| RS543482000 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752145775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757683184 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761283105 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial disease, Combined oxidative phosphorylation deficiency 39, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS780691008 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS924438731 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1370043372 | Health Risk | Likely pathogenic | GFM2-related disorder, GFM2-related disorder |
| RS1744128996 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |
| RS751099539 | Health Risk | Likely pathogenic | — |
| RS764127754 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |
| RS773010798 | Health Risk | Likely pathogenic | — |
| RS1554042187 | Health Risk | Pathogenic | Mitochondrial disease, Combined oxidative phosphorylation deficiency 39, Mitochondrial disease |
| RS746538436 | Health Risk | Pathogenic | Mitochondrial disease, Combined oxidative phosphorylation deficiency 39, Mitochondrial disease |
| RS869320703 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |
| RS869320704 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |
| RS1240552971 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39 |