- L2HGDH
L-2-hydroxyglutarate dehydrogenase, also known as L2HGDH, is a human
gene .cite web | title = Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79944| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene causeL-2-hydroxyglutaric aciduria , a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.cite web | title = Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79944| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Duran M, Kamerling JP, Bakker HD, "et al." |title=L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? |journal=J. Inherit. Metab. Dis. |volume=3 |issue= 4 |pages= 109–12 |year= 1981 |pmid= 6787330 |doi=
*cite journal | author=Jansen GA, Wanders RJ |title=L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. |journal=Biochim. Biophys. Acta |volume=1225 |issue= 1 |pages= 53–6 |year= 1993 |pmid= 8241290 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Topçu M, Jobard F, Halliez S, "et al." |title=L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. |journal=Hum. Mol. Genet. |volume=13 |issue= 22 |pages= 2803–11 |year= 2006 |pmid= 15385440 |doi= 10.1093/hmg/ddh300
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rzem R, Veiga-da-Cunha M, Noël G, "et al." |title=A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 48 |pages= 16849–54 |year= 2005 |pmid= 15548604 |doi= 10.1073/pnas.0404840101
*cite journal | author=Rzem R, Van Schaftingen E, Veiga-da-Cunha M |title=The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. |journal=Biochimie |volume=88 |issue= 1 |pages= 113–6 |year= 2006 |pmid= 16005139 |doi= 10.1016/j.biochi.2005.06.005
*cite journal | author=Vilarinho L, Cardoso ML, Gaspar P, "et al." |title=Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. |journal=Hum. Mutat. |volume=26 |issue= 4 |pages= 395–6 |year= 2006 |pmid= 16134148 |doi= 10.1002/humu.9373
*cite journal | author=Struys EA, Gibson KM, Jakobs C |title=Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. |journal=J. Inherit. Metab. Dis. |volume=30 |issue= 5 |pages= 690–3 |year= 2007 |pmid= 17876720 |doi= 10.1007/s10545-007-0697-5PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.
