D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene .[ 5] [ 6] [ 7]
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.[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000180902 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073609 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E (Jun 2004). "Identification of a dehydrogenase acting on D-2-hydroxyglutarate" . Biochem J . 381 (Pt 1): 35–42. doi :10.1042/BJ20031933 . PMC 1133759 PMID 15070399 . ^ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria" . Am J Hum Genet . 76 (2): 358–60. doi :10.1086/427890 . PMC 1196381 PMID 15609246 . ^ a b "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase" .
Gibson KM, Craigen W, Herman GE, Jakobs C (1995). "D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?". J. Inherit. Metab. Dis . 16 (3): 497–500. doi :10.1007/BF00711664 . PMID 7609436 . S2CID 31099476 . Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31. Bibcode :2005Natur.434..724H . doi :10.1038/nature03466 PMID 15815621 . Struys EA, Korman SH, Salomons GS, et al. (2005). "Mutations in phenotypically mild D-2-hydroxyglutaric aciduria". Ann. Neurol . 58 (4): 626–30. doi :10.1002/ana.20559 . PMID 16037974 . S2CID 45926378 . Misra VK, Struys EA, O'brien W, et al. (2006). "Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins". Mol. Genet. Metab . 86 (1–2): 200–5. doi :10.1016/j.ymgme.2005.06.005 . PMID 16081310 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Struys EA, Verhoeven NM, Salomons GS, et al. (2006). "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. doi :10.1016/j.ymgme.2005.12.002 . PMID 16442322 . Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry" . Mol. Syst. Biol . 3 (1): 89. doi :10.1038/msb4100134 . PMC 1847948 PMID 17353931 .
