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GFM2 mutations could be causative of a phenotype of Leigh syndrome with arthrogryposis multiplex congenita.
These findings constitute the first reported phenotype associated with SNPs in the EF-G2mt gene and implicate the human EF-G2mt gene as a pharmacogenetic candidate gene for statin toxicity in humans
Myoblasts isolated from the MELAS patients show A3243G mutation in tRNALeu(UUR) produces a severe respiratory chain deficiency and this phenotype can be partially suppressed by overexpression of EFTu (显示 Tufm 蛋白) and EFG2.
EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein (显示 COX6B2 蛋白) synthesis.
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 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. Alternative splicing results in at least three transcript variants encoding distinct isoforms.
, elongation factor G 2, mitochondrial
, mEF-G 2
, ribosome-releasing factor 2, mitochondrial
, G elongation factor, mitochondrial 2
, mitochondrial elongation factor G2
, Elongation factor G 2, mitochondrial
, ribosome-releasing factor 2, mitochondrial-like
, mitochondrial ribosome recycling factor 2