GFM2 Chromosome 5

GTP dependent ribosome recycling factor mitochondrial 2
25 variants 25 Health Risk

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
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
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