Jump to: navigation, search
L-2-hydroxyglutarate dehydrogenase
Symbol(s) L2HGDH; C14orf160; FLJ12618
External IDs OMIM: 609584 MGI2384968 Homologene11767
RNA expression pattern

PBB GE L2HGDH 220089 at tn.png

More reference expression data

Human Mouse
Entrez 79944 217666
Ensembl ENSG00000087299 ENSMUSG00000020988
Uniprot Q9H9P8 Q91YP0
Refseq NM_024884 (mRNA)
NP_079160 (protein)
NM_145443 (mRNA)
NP_663418 (protein)
Location Chr 14: 49.77 - 49.85 Mb Chr 12: 70.61 - 70.64 Mb
Pubmed search [1] [2]

WikiDoc Resources for L2HGDH


Most recent articles on L2HGDH

Most cited articles on L2HGDH

Review articles on L2HGDH

Articles on L2HGDH in N Eng J Med, Lancet, BMJ


Powerpoint slides on L2HGDH

Images of L2HGDH

Photos of L2HGDH

Podcasts & MP3s on L2HGDH

Videos on L2HGDH

Evidence Based Medicine

Cochrane Collaboration on L2HGDH

Bandolier on L2HGDH


Clinical Trials

Ongoing Trials on L2HGDH at Clinical Trials.gov

Trial results on L2HGDH

Clinical Trials on L2HGDH at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on L2HGDH

NICE Guidance on L2HGDH





Books on L2HGDH


L2HGDH in the news

Be alerted to news on L2HGDH

News trends on L2HGDH


Blogs on L2HGDH


Definitions of L2HGDH

Patient Resources / Community

Patient resources on L2HGDH

Discussion groups on L2HGDH

Patient Handouts on L2HGDH

Directions to Hospitals Treating L2HGDH

Risk calculators and risk factors for L2HGDH

Healthcare Provider Resources

Symptoms of L2HGDH

Causes & Risk Factors for L2HGDH

Diagnostic studies for L2HGDH

Treatment of L2HGDH

Continuing Medical Education (CME)

CME Programs on L2HGDH


L2HGDH en Espanol

L2HGDH en Francais


L2HGDH in the Marketplace

Patents on L2HGDH

Experimental / Informatics

List of terms related to L2HGDH

L-2-hydroxyglutarate dehydrogenase, also known as L2HGDH, is a human gene.[1]

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 cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.[1]


Further reading

  • Duran M, Kamerling JP, Bakker HD; et al. (1981). "L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?". J. Inherit. Metab. Dis. 3 (4): 109–12. PMID 6787330. 
  • Jansen GA, Wanders RJ (1993). "L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.". Biochim. Biophys. Acta. 1225 (1): 53–6. PMID 8241290. 
  • 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. PMID 12477932. doi:10.1073/pnas.242603899. 
  • 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. PMID 14702039. doi:10.1038/ng1285. 
  • Topçu M, Jobard F, Halliez S; et al. (2006). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.". Hum. Mol. Genet. 13 (22): 2803–11. PMID 15385440. doi:10.1093/hmg/ddh300. 
  • 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. PMID 15489334. doi:10.1101/gr.2596504. 
  • Rzem R, Veiga-da-Cunha M, Noël G; et al. (2005). "A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.". Proc. Natl. Acad. Sci. U.S.A. 101 (48): 16849–54. PMID 15548604. doi:10.1073/pnas.0404840101. 
  • Rzem R, Van Schaftingen E, Veiga-da-Cunha M (2006). "The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.". Biochimie. 88 (1): 113–6. PMID 16005139. doi:10.1016/j.biochi.2005.06.005. 
  • Vilarinho L, Cardoso ML, Gaspar P; et al. (2006). "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.". Hum. Mutat. 26 (4): 395–6. PMID 16134148. doi:10.1002/humu.9373. 
  • Struys EA, Gibson KM, Jakobs C (2007). "Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.". J. Inherit. Metab. Dis. 30 (5): 690–3. PMID 17876720. doi:10.1007/s10545-007-0697-5.