The Function of ALDH5A1
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Protein names
Recommended name:
Succinate-semialdehyde dehydrogenase, mitochondrialShort name:
NAD(+Alternative name(s):
Aldehyde dehydrogenase family 5 member A1- RS2760118 (ALDH5A1) ??
- RS2770296 (ALDH5A1) ??
- RS3765310 (ALDH5A1) ??
To see your genotype, you should be logged in and have a file with your genotype uploaded.
Top Gene-Substance Interactions
ALDH5A1 Interacts with These Diseases
Disease | Score |
Substances That Increase ALDH5A1
Substances | Interaction | Organism | Category |
Substances That Decrease ALDH5A1
Substances | Interaction | Organism | Category |
Advanced Summary
succinic semialdehyde dehydrogenase deficiency At least 35 mutations in the ALDH5A1 gene have been found to cause succinic semialdehyde dehydrogenase deficiency. Most of these mutations change one protein building block (amino acid) in the succinic semialdehyde dehydrogenase enzyme. Mutations in the ALDH5A1 gene lead to the production of an enzyme with little or no activity. A lack of functional succinic semialdehyde dehydrogenase disrupts the conversion of succinic semialdehyde to succinic acid. Instead, succinic semialdehyde is converted back into GABA or to a related molecule, gamma-hydroxybutyrate (GHB). It is unclear how increases in GHB and GABA cause developmental delay, seizures, and other features of succinic semialdehyde dehydrogenase deficiency.
The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is found in the energy-producing centers of cells (mitochondria). Succinic semialdehyde dehydrogenase is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. Once GABA molecules have been released from nerve cells, they are broken down by succinic semialdehyde dehydrogenase and other enzymes.
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
---|
Conditions with Decreased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
---|
Technical
The following transcription factors affect gene expression:
Tissue specificity:
Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Gene Pathways:
Enzyme Regulation:
Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
Molecular Function:
- Aldehyde Dehydrogenase (Nad) Activity
- Protein Homodimerization Activity
- Succinate-Semialdehyde Dehydrogenase (Nad+) Activity
- Aldehyde Dehydrogenase
- Carboxylic Acid Binding
- Nad Binding
- Succinate-Semialdehyde Dehydrogenase [Nad(P)+] Activity
Biological Processes:
- Acetate Metabolic Process
- Central Nervous System Development
- Galactosylceramide Metabolic Process
- Gamma-Aminobutyric Acid Catabolic Process
- Glucose Metabolic Process
- Glucosylceramide Metabolic Process
- Glutamate Metabolic Process
- Glutamine Metabolic Process
- Glutathione Metabolic Process
- Glycerophospholipid Metabolic Process
- Neurotransmitter Catabolic Process
- Post-Embryonic Development
- Protein Homotetramerization
- Respiratory Electron Transport Chain
- Short-Chain Fatty Acid Metabolic Process
- Succinate Metabolic Process