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Literature summary 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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.1.99.2 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

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

Inhibitors

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

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.1.99.2 0.8
-
 (S)-2-hydroxyglutarate
-
 Homo sapiens

Localization

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

Metals/Ions

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

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.1.99.2 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

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.99.2 (S)-2-hydroxyglutarate + acceptor
-
 Homo sapiens 2-oxoglutarate + reduced acceptor
-
 ?
1.1.99.2 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

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