D2HGDH

D-2-hydroxyglutarate dehydrogenase
Identifiers
Symbols	D2HGDH ; D2HGD; FLJ42195; MGC25181
External IDs	Template:OMIM5 HomoloGene: 89182
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

D-2-hydroxyglutarate dehydrogenase, also known as D2HGDH, is a human gene.

This gene encodes D-2hydroxyglutarate dehydrogenase, 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.

Further reading

• 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. PMID 7609436.CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Achouri Y, Noël G, Vertommen D; et al. (2004). "Identification of a dehydrogenase acting on D-2-hydroxyglutarate". Biochem. J. 381 (Pt 1): 35–42. doi:10.1042/BJ20031933. PMID 15070399.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Struys EA, Salomons GS, Achouri Y; et al. (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. PMID 15609246.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1038/nature03466. PMID 15815621.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)