MTHFD2 explained

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial is an enzyme that in humans is encoded by the MTHFD2 gene.^{[1] [2] [3]}

This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in multiple transcripts encoding different isoforms. This gene has a pseudogene on chromosome 7.

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Kokame K, Kato H, Miyata T . Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes . J. Biol. Chem. . 271 . 47 . 29659–65 . 1997 . 8939898 . 10.1074/jbc.271.47.29659 . free .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Pawelek PD, MacKenzie RE . Methenyltetrahydrofolate cyclohydrolase is rate limiting for the enzymatic conversion of 10-formyltetrahydrofolate to 5,10-methylenetetrahydrofolate in bifunctional dehydrogenase-cyclohydrolase enzymes . Biochemistry . 37 . 4 . 1109–15 . 1998 . 9454603 . 10.1021/bi971906t .
• Strausberg RL . 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 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Gerhard DS . 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 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Hillier LW . Generation and annotation of the DNA sequences of human chromosomes 2 and 4 . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . vanc. Graves TA . Fulton RS . 3 . Fulton . Lucinda A. . Pepin . Kymberlie H. . Minx . Patrick . Wagner-Mcpherson . Caryn . Layman . Dan . Wylie . Kristine . 2005Natur.434..724H . free .
• Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Ewing RM . Large-scale mapping of human protein–protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 . vanc. Chu P . Elisma F . 3 . Li . Hongyan . Taylor . Paul . Climie . Shane . McBroom-Cerajewski . Linda . Robinson . Mark D . O'Connor . Liam .

Notes and References

1. Peri KG, Belanger C, Mackenzie RE . Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase . Nucleic Acids Res . 17 . 21 . 8853 . Dec 1989 . 2587219 . 335047 . 10.1093/nar/17.21.8853 .
2. Yang XM, MacKenzie RE . NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene . Biochemistry . 32 . 41 . 11118–23 . Nov 1993 . 8218174 . 10.1021/bi00092a022 .
3. Web site: Entrez Gene: MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase.