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Literature summary for 1.1.5.13 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

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

Inhibitors

Inhibitors Comment Organism Structure
D-2-hydroxyglutarate
-
Homo sapiens

KM Value [mM]

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

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

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
L-2-hydroxyglutarate dehydrogenase
-
Homo sapiens
L2HGDH
-
Homo sapiens

Cofactor

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

General Information

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