Literature summary for 1.2.1.24 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.

Search for more literature for 1.2.1.24

Cloned(Commentary)

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

Protein Variants

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

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
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	-	ir

Organism

Organism	UniProt	Comment	Textmining
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)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
succinate semialdehyde + NAD+ + H2O	-	Homo sapiens	succinate + NADH	-	ir
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

Synonyms	Comment	Organism
SSADH	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
NAD+	-	Homo sapiens

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Release 2023.1 (January 2023)