L2HGDH

From Wikipedia, the free encyclopedia

L-2-hydroxyglutarate dehydrogenase

Identifiers

L2HGDH; C14orf160; FLJ12618

External IDs

OMIM: 609584 MGI: 2384968 HomoloGene: 11767

Gene ontology
Molecular Function:	• oxidoreductase activity • 2-hydroxyglutarate dehydrogenase activity
Cellular Component:	• mitochondrion • integral to membrane • integral to mitochondrial inner membrane
Biological Process:	• electron transport • cellular protein metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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]

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]

[edit] References

^ ^a ^b Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase.

[edit] 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. doi:10.1073/pnas.242603899. 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.
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. doi:10.1093/hmg/ddh300. PMID 15385440.
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.
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. doi:10.1073/pnas.0404840101. PMID 15548604.
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. doi:10.1016/j.biochi.2005.06.005. PMID 16005139.
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. doi:10.1002/humu.9373. PMID 16134148.
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. doi:10.1007/s10545-007-0697-5. PMID 17876720.