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Literature summary for 1.2.1.24 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
Search for more literature for 1.2.1.24

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
succinate semialdehyde + NAD+ + H2O Homo sapiens
-
 succinate + NADH + 2 H+
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P51649
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphoblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
succinate semialdehyde + NAD+ + H2O
-
 Homo sapiens succinate + NADH + 2 H+
-
 ?

Synonyms

Synonyms Comment Organism
ALDH5A1
-
 Homo sapiens
SSADH
-
 Homo sapiens
succinic semialdehyde dehydrogenase
-
 Homo sapiens

Temperature Optimum [°C]

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

pH Optimum

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

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Homo sapiens

General Information

General Information Comment Organism
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