GFM1 explained

Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog.^{[1] [2] [3]}

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.

Further reading

• Bec G, Kerjan P, Zha XD, Waller JP . Valyl-tRNA synthetase from rabbit liver. I. Purification as a heterotypic complex in association with elongation factor 1 . J. Biol. Chem. . 264 . 35 . 21131–7 . 1990 . 10.1016/S0021-9258(19)30056-0 . 2556394 . free .
• Motorin YuA . Wolfson AD . Orlovsky AF . Gladilin KL . Mammalian valyl-tRNA synthetase forms a complex with the first elongation factor . FEBS Lett. . 238 . 2 . 262–4 . 1988 . 3169261 . 10.1016/0014-5793(88)80492-7 . 45934458 . free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Bhargava K, Templeton P, Spremulli LL . Expression and characterization of isoform 1 of human mitochondrial elongation factor G . Protein Expr. Purif. . 37 . 2 . 368–76 . 2005 . 15358359 . 10.1016/j.pep.2004.06.030 .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Coenen MJ, Antonicka H, Ugalde C . Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency . N. Engl. J. Med. . 351 . 20 . 2080–6 . 2004 . 15537906 . 10.1056/NEJMoa041878 . etal. 2066/143650 . 96906 . free .
• Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA . The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1 . Hum. Mol. Genet. . 15 . 11 . 1835–46 . 2006 . 16632485 . 10.1093/hmg/ddl106 . free .
• Valente L, Tiranti V, Marsano RM . Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu . Am. J. Hum. Genet. . 80 . 1 . 44–58 . 2007 . 17160893 . 10.1086/510559 . 1785320 . etal.

Notes and References

1. Gao J, Yu L, Zhang P, Jiang J, Chen J, Peng J, Wei Y, Zhao S . Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2 . Genomics . 74 . 1 . 109–14 . May 2001 . 11374907 . 10.1006/geno.2001.6536 .
2. Hammarsund M, Wilson W, Corcoran M, Merup M, Einhorn S, Grander D, Sangfelt O . Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution . Hum Genet . 109 . 5 . 542–50 . Dec 2001 . 11735030 . 10.1007/s00439-001-0610-5 . 24508386 .
3. Web site: Entrez Gene: GFM1 G elongation factor, mitochondrial 1.