L2HGDH
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| L-2-hydroxyglutarate dehydrogenase | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | L2HGDH; C14orf160 | ||||||||||||
| External IDs | OMIM: 609584 MGI: 2384968 HomoloGene: 11767 GeneCards: L2HGDH Gene | ||||||||||||
| EC number | 1.1.99.2 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 79944 | 217666 | |||||||||||
| Ensembl | ENSG00000087299 | ENSMUSG00000020988 | |||||||||||
| UniProt | Q9H9P8 | Q91YP0 | |||||||||||
| RefSeq (mRNA) | NM_024884 | NM_145443 | |||||||||||
| RefSeq (protein) | NP_079160 | NP_663418 | |||||||||||
| Location (UCSC) | Chr 14: 50.7 – 50.78 Mb | Chr 12: 69.69 – 69.72 Mb | |||||||||||
| PubMed search | |||||||||||||
L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene.[1][2]
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.[2]
See also
- D2HGDH
- 2-hydroxyglutarate synthase
- 2-hydroxyglutarate dehydrogenase
- Hydroxyacid-oxoacid transhydrogenase
References
- ↑ Rzem R, Van Schaftingen E, Veiga-da-Cunha M (Nov 2005). "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.
- ↑ 2.0 2.1 "Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase".
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. doi:10.1007/BF02312543. 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. PMC 139241. 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. PMC 528928. 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. PMC 534725. PMID 15548604.
- 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.
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