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Literature summary for 1.1.99.2 extracted from

  • Rzem, R.; Van Schaftingen, E.; Veiga-da-Cunha, M.
    The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase (2006), Biochimie, 88, 113-116.
    View publication on PubMed
Search for more literature for 1.1.99.2

Cloned(Commentary)

Cloned (Comment) Organism
transfection of HEK cells with cDNA encoding the product of the human gene leads to more than 15fold increase in L-2-hydroxyglutarate dehydrogenase activity Homo sapiens

Protein Variants

Protein Variants Comment Organism
DELTA-exon9 mutated protein is inactive and abnormally processed Homo sapiens
E176D mutated protein is inactive and abnormally processed Homo sapiens
K81E mutated protein is inactive and abnormally processed Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
additional information activity is not affected by 1 mM EDTA Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.8
-
 (S)-2-hydroxyglutarate
-
 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Metals/Ions

Metals/Ions Comment Organism Structure
additional information activity is not affected by 0.01 mM Co2+ or 0.01 mM Zn2+ Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations (K81E, E176D, DELTA-exon9) found in patients with L-2-hydroxyglutaric aciduria supress L-2-hydroxyglutarate dehydrogenase activity. L-2-hydroxyglutartic aciduria is due to a deficiency in L-2-hydroxyglutarate dehydrogenase ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(S)-2-hydroxyglutarate + acceptor
-
 Homo sapiens 2-oxoglutarate + reduced acceptor
-
 ?
additional information mutations (K81E, E176D, DELTA-exon9) found in patients with L-2-hydroxyglutaric aciduria supress L-2-hydroxyglutarate dehydrogenase activity. L-2-hydroxyglutartic aciduria is due to a deficiency in L-2-hydroxyglutarate dehydrogenase Homo sapiens ?
-
 ?

Cofactor

Cofactor Comment Organism Structure
FAD modestly stimulated by FAD, up to 50% at 0.05 mM, FAD is tightly bound Homo sapiens