Gene: GFM2

Alternate names for this Gene: EF-G2mt|EFG2|MRRF2|MST027|MSTP027|RRF|RRF2|RRF2mt|hEFG2|mEF-G 2

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.3

Description of this Gene: GTP dependent ribosome recycling factor mitochondrial 2

Type of Gene: protein-coding

rs1554042187 in GFM2 gene and Mitochondrial Diseases PMID 29075935 2017 Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.