L2HGDH

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L-2-hydroxyglutarate dehydrogenase
Identifiers
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

Orthologs
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]

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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]


References

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. 
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