D2HGDH explained

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.^{[1] [2] [3]}

This gene encodes D-2hydroxyglutarate dehydrogenase is a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.

See also

• L2HGDH
• 2-hydroxyglutarate synthase
• 2-hydroxyglutarate dehydrogenase
• Hydroxyacid-oxoacid transhydrogenase

Further reading

• Gibson KM, Craigen W, Herman GE, Jakobs C . D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? . J. Inherit. Metab. Dis. . 16 . 3 . 497–500 . 1995 . 7609436 . 10.1007/BF00711664 . 31099476 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . 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 .
• 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.
• Hillier LW, Graves TA, Fulton RS . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . etal. free .
• Struys EA, Korman SH, Salomons GS . Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. . Ann. Neurol. . 58 . 4 . 626–30 . 2005 . 16037974 . 10.1002/ana.20559 . 45926378 . etal.
• Misra VK, Struys EA, O'brien W . Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. . Mol. Genet. Metab. . 86 . 1–2 . 200–5 . 2006 . 16081310 . 10.1016/j.ymgme.2005.06.005 . etal.
• Kimura K, Wakamatsu A, Suzuki Y . 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 . etal.
• Struys EA, Verhoeven NM, Salomons GS . D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? . Mol. Genet. Metab. . 88 . 1 . 53–7 . 2006 . 16442322 . 10.1016/j.ymgme.2005.12.002 . etal.
• Ewing RM, Chu P, Elisma F . Large-scale mapping of human protein-protein interactions by mass spectrometry. . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 . etal.

Notes and References

1. Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E . Identification of a dehydrogenase acting on D-2-hydroxyglutarate . Biochem J . 381 . Pt 1 . 35–42 . Jun 2004 . 15070399 . 1133759 . 10.1042/BJ20031933 .
2. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C . Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria . Am J Hum Genet . 76 . 2 . 358–60 . Jan 2005 . 15609246 . 1196381 . 10.1086/427890 .
3. Web site: Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase.