(S)-2-hydroxyglutarate + FAD => 2-oxoglutarate + FADH2

Stable Identifier
Reaction [transition]
Homo sapiens
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L2HDGH associated with the mitochondrial inner membrane catalyzes the FAD-dependent reaction of (S)-2-hydroxyglutarate to form 2-oxoglutarate (Rzem et al. 2006). L2HDGH mutations are associated with high levels of (S)-2-hydroxyglutarate in vivo and variable neurological symptoms (Rzem et al. 2004; Topcu et al. 2004).

Literature References
PubMed ID Title Journal Year
15548604 A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

Goffette, S, Rzem, R, Scholler, C, Tabarki, B, Noel, G, Marquardt, T, Veiga-da-Cunha, M, Van Schaftingen, E, Vikkula, M, Nassogne, MC

Proc Natl Acad Sci U S A 2004
15385440 L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Coskun, T, Halliez, S, Prud'homme, JF, Topçu, M, Lathrop, M, Fischer, J, Ozguc, M, Wanders, RJA, Yalçinkayal, C, Jobard, F, Gerceker, FO

Hum Mol Genet 2004
16005139 The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

Rzem, R, Veiga-da-Cunha, M, Van Schaftingen, E

Biochimie 2006
Catalyst Activity

2-hydroxyglutarate dehydrogenase activity of L2HGDH [mitochondrial inner membrane]

Orthologous Events
Cross References
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