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Literature summary for 1.1.99.2 extracted from

  • Rzem, R.; Veiga-da-Cunha, M.; Noel, G.; Goffette, S.; Nassogne, M.C.; Tabarki, B.; Scholler, 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
additional information A320G, G607T, naturally occurring mutations found in L-2-hydroxyglutaric aciduria affected patients Homo sapiens

General Stability

General Stability Organism
very labile in purification processes Rattus norvegicus

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion bound to membrane Rattus norvegicus 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(S)-2-hydroxyglutarate + acceptor Homo sapiens enzyme deficiency might be the cause of L-2-hydroxyglutaric aciduria 2-oxoglutarate + reduced acceptor
-
?
(S)-2-hydroxyglutarate + FAD Rattus norvegicus enzyme deficiency might be the cause of L-2-hydroxyglutaric aciduria 2-oxoglutarate + FADH2
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H9P8 families affected from L-2-hydroxyglutaric aciduria
-
Rattus norvegicus
-
-
-

Purification (Commentary)

Purification (Comment) Organism
partially purified from liver, further purification not possible due to the instability of the enzyme Rattus norvegicus

Source Tissue

Source Tissue Comment Organism Textmining
brain low level Rattus norvegicus
-
heart low level Rattus norvegicus
-
kidney
-
Rattus norvegicus
-
liver
-
Rattus norvegicus
-
additional information traces of activity in muscle and spleen Rattus norvegicus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(S)-2-hydroxyglutarate + acceptor
-
Homo sapiens 2-oxoglutarate + reduced acceptor
-
?
(S)-2-hydroxyglutarate + acceptor enzyme deficiency might be the cause of L-2-hydroxyglutaric aciduria Homo sapiens 2-oxoglutarate + reduced acceptor
-
?
(S)-2-hydroxyglutarate + FAD
-
Rattus norvegicus 2-oxoglutarate + FADH2
-
?
(S)-2-hydroxyglutarate + FAD enzyme deficiency might be the cause of L-2-hydroxyglutaric aciduria Rattus norvegicus 2-oxoglutarate + FADH2
-
?
(S)-2-hydroxyglutarate + iodonitrotetrazolium
-
Rattus norvegicus 2-oxoglutarate + ?
-
?
additional information no activity with D-2-hydroxyglutarate, L-malate, and L-lactate Rattus norvegicus ?
-
?

Cofactor

Cofactor Comment Organism Structure
FAD
-
Rattus norvegicus
additional information no activation with FMN Rattus norvegicus