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Literature summary extracted from

  • Rzem, R.; Veiga-da-Cunha, M.; Noel, G.; Goffette, S.; Nassogne, M.C.; Tabarki, B.; Schoeller, C.; Marquardt, T.; Vikkula, M.; Van Schaftingen, E.
    A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria (2004), Proc. Natl. Acad. Sci. USA, 101, 16849-16854 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
1.1.5.13 DELTA-exon9 the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
1.1.5.13 E176D the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens
1.1.5.13 K71E the mutation is associated with L-2-hydroxyglutaric aciduria Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
1.1.5.13 D-2-hydroxyglutarate
-
 Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.1.5.13 0.15
-
 iodonitrotetrazolium at pH 7.1 and 30°C Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.1.5.13 mitochondrial membrane
-
 Homo sapiens 31966
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.1.5.13 L-2-hydroxyglutarate + a quinone Homo sapiens
-
 2-oxoglutarate + a quinol
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.1.5.13 Homo sapiens
-
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
1.1.5.13 DEAE Sepharose column chromatography and Q-Sepharose column chromatography Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.1.5.13 brain
-
 Homo sapiens
-
1.1.5.13 heart
-
 Homo sapiens
-
1.1.5.13 kidney high expression Homo sapiens
-
1.1.5.13 liver highest expression Homo sapiens
-
1.1.5.13 skeletal muscle
-
 Homo sapiens
-
1.1.5.13 spleen lowest expression Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.5.13 L-2-hydroxyglutarate + a quinone
-
 Homo sapiens 2-oxoglutarate + a quinol
-
 ?
1.1.5.13 L-2-hydroxyglutarate + iodonitrotetrazolium
-
 Homo sapiens 2-oxoglutarate + reduced iodonitrotetrazolium
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.1.5.13 L-2-hydroxyglutarate dehydrogenase
-
 Homo sapiens
1.1.5.13 L2HGDH
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.1.5.13 FAD dependent on Homo sapiens
1.1.5.13 additional information the enzyme is not stimulated by FMN Homo sapiens

General Information

EC Number General Information Comment Organism
1.1.5.13 malfunction enzyme mutations cause L-2-hydroxyglutaric aciduria Homo sapiens