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

Stable Identifier
R-HSA-880050
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
15385440 L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

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

Hum Mol Genet 2004
15548604 A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

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

Proc Natl Acad Sci U S A 2004
16005139 The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

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

Biochimie 2006
Participants
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Catalyst Activity
Catalyst Activity
Title
2-hydroxyglutarate dehydrogenase activity of L2HGDH [mitochondrial inner membrane]
Physical Entity
Activity
Orthologous Events
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Created