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Literature summary extracted from

  • Blasi, P.; Boyl, P.P.; Ledda, M.; Novelletto, A.; Gibson, K.M.; Jakobs, C.; Hogema, B.; Akaboshi, S.; Loreni, F.; Malaspina, P.
    Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms (2002), Mol. Genet. Metab., 76, 348-362.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.2.1.24 transfection of HEK 293 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.2.1.24 A273S naturally occuring missense variant expressed in HEK293 cells, 65.1% of the SSADH activity of the wild-type enzyme Homo sapiens
1.2.1.24 G36R naturally occuring missense variant expressed in HEK293 cells, 86.7% of the SSADH activity of the wild-type enzyme Homo sapiens
1.2.1.24 H180Y naturally occuring missense variant expressed in HEK293 cells, 82.5% of the SSADH activity of the wild-type enzyme Homo sapiens
1.2.1.24 P182L naturally occuring missense variant expressed in HEK293 cells, 47.6% of the SSADH activity of the wild-type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.2.1.24 succinate semialdehyde + NAD+ + H2O Homo sapiens last enzyme in catabolism of 4-aminobutyric acid. Human SSADH deficiency results in 4-hydroxybutyric aciduria, an autosomal recessive disorder due to an accumulation of 4-aminobutyric acid and 4-hydroxybutyric acid in the CNS succinate + NADH
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ir

Organism

EC Number Organism UniProt Comment Textmining
1.2.1.24 Homo sapiens Q8N3W7 complete sequence of cDNA clone H46643 with C538/transition; naturally occuring missense variants, which may significantly contribute to inter-individual variation of SSADH activity, possibly influencing endogenous level of 4-aminobutyric acid and 4-hydroxybutyric acid
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.2.1.24 succinate semialdehyde + NAD+ + H2O
-
Homo sapiens succinate + NADH
-
ir
1.2.1.24 succinate semialdehyde + NAD+ + H2O last enzyme in catabolism of 4-aminobutyric acid. Human SSADH deficiency results in 4-hydroxybutyric aciduria, an autosomal recessive disorder due to an accumulation of 4-aminobutyric acid and 4-hydroxybutyric acid in the CNS Homo sapiens succinate + NADH
-
ir

Synonyms

EC Number Synonyms Comment Organism
1.2.1.24 SSADH
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Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.2.1.24 NAD+
-
Homo sapiens