EC Number | Cloned (Comment) | Organism |
---|---|---|
1.2.1.24 | transfection of HEK 293 cells | Homo sapiens |
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 |
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 | - |
ir |
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 | - |
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 |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
1.2.1.24 | SSADH | - |
Homo sapiens |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
1.2.1.24 | NAD+ | - |
Homo sapiens |