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Literature summary for 1.2.1.31 extracted from

  • Coughlin, C.R.; Tseng, L.A.; Abdenur, J.E.; Ashmore, C.; Boemer, F.; Bok, L.A.; Boyer, M.; Buhas, D.; Clayton, P.T.; Das, A.; Dekker, H.; Evangeliou, A.; Feillet, F.; Footitt, E.J.; Gospe, S.M.; Hartmann, H.; Kara, M.; Kristensen, E.; Lee, J.; Lilje, R.; Longo, N.; Lunsing, R.J.; Mills, P.; Papadopoulou, M.T.
    Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency (2021), J. Inherit. Metab. Dis., 44, 178-192.
    View publication on PubMed
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(S)-2-amino-6-oxohexanoate + NAD+ + H2O Homo sapiens
-
 L-2-aminoadipate + NADH + H+
-
 ?
(S)-2-amino-6-oxohexanoate + NADP+ + H2O Homo sapiens
-
 L-2-aminoadipate + NADPH + H+
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P49419
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(S)-2-amino-6-oxohexanoate + NAD+ + H2O
-
 Homo sapiens L-2-aminoadipate + NADH + H+
-
 ?
(S)-2-amino-6-oxohexanoate + NADP+ + H2O
-
 Homo sapiens L-2-aminoadipate + NADPH + H+
-
 ?

Synonyms

Synonyms Comment Organism
Aldh7a1
-
 Homo sapiens
alpha-AASA dehydrogenase
-
 Homo sapiens
alpha-aminoadipic semialdehyde dehydrogenase
-
 Homo sapiens
antiquitin
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme deficiency causes pyridoxine-dependent epilepsy Homo sapiens
metabolism key enzyme in lysine oxidation Homo sapiens