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Literature summary extracted from

  • Puettmann, L.; Stehr, H.; Garshasbi, M.; Hu, H.; Kahrizi, K.; Lipkowitz, B.; Jamali, P.; Tzschach, A.; Najmabadi, H.; Ropers, H.H.; Musante, L.; Kuss, A.W.
    A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family (2013), Am. J. Med. Genet. A, 161A, 1915-1922 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.2.1.24 gene ALDH5A1, screening and genotyping, DNA and amino acid sequence determination and analysis Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.2.1.24 K301E naturally occuring homozygous missense mutation c.901A>G, inactive mutant, the mutation leads to semialdehyde dehydrogenase (SSADH) deficiency disorder, phenotype overview. Mutation K301E most likely leads to a loss of NAD+ binding and a predicted decrease in the free energy by 6.67 kcal/mol suggesting a severe destabilization of the protein. Structure-based in silico modeling of the mutant protein Homo sapiens

Localization

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

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
-
succinate + NADH + 2 H+
-
?

Organism

EC Number Organism UniProt Comment Textmining
1.2.1.24 Homo sapiens P51649
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.2.1.24 lymphoblast
-
Homo sapiens
-

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 + 2 H+
-
?

Synonyms

EC Number Synonyms Comment Organism
1.2.1.24 ALDH5A1
-
Homo sapiens
1.2.1.24 SSADH
-
Homo sapiens
1.2.1.24 succinic semialdehyde dehydrogenase
-
Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.2.1.24 37
-
assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.2.1.24 8.6
-
assay at Homo sapiens

Cofactor

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

General Information

EC Number General Information Comment Organism
1.2.1.24 malfunction mutation of gene ALDH5A1 with amino acid exchange K301E is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited metabolic disorder of the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA) with a very variable clinical phenotype ranging from mild intellectual disability to severe neurological defects. The disorder results in the accumulation of gamma-hydroxybutyrate in the brain, 30fold increased level compared to wild-type. No SSADH enzyme activity is detected in the patient's lymphoblasts Homo sapiens