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Target intelligence / Profile preview
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1)
- Target
- ALDH7A1
- Molecular classification
- Enzyme, Aldehyde dehydrogenase family (subfamily 7), Oxidoreductase
01
Overview
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1, antiquitin) is a cytosolic, nuclear, and mitochondrial enzyme that catalyzes the oxidation of alpha-aminoadipic semialdehyde to alpha-aminoadipate, an essential step in lysine catabolism and energy production in the brain. It also metabolizes toxic aldehydes, including lipid peroxidation products and betaine aldehyde, thereby protecting cells from oxidative and osmotic stress and contributing to methyl group homeostasis through betaine production. Mutations in ALDH7A1 cause pyridoxine-dependent epilepsy, manifested by seizures resistant to standard antiepileptic drugs but responsive to vitamin B6 supplementation. ALDH7A1 is expressed in various tissues, primarily liver, kidney, and brain, and exists in multiple isoforms as a consequence of alternative translation initiation and splicing.
- Other names
- AntiquitinAlpha-aminoadipic semialdehyde dehydrogenaseAlpha-AASA dehydrogenaseP6c dehydrogenaseEPDPDEATQ1Betaine aldehyde dehydrogenaseDelta1-piperideine-6-carboxylate dehydrogenase26g turgor protein homolog
02
Mechanism of action
Pyridoxine supplementation counteracts the enzyme deficiency by restoring neurotransmitter balance and amino acid metabolism
03
Biological functions
Lysine degradationDetoxification of lipid peroxidation-derived and other toxic aldehydesCellular protection against hyperosmotic and oxidative stressOsmolyte generation (synthesis of betaine)Role in cell cycle and DNA protection
04
Disease associations
Pyridoxine-dependent epilepsy (also known as Vitamin B6-dependent epilepsy)Neurodevelopmental disorder (vitamin B6-dependent developmental and epileptic encephalopathy)Potential involvement in oxidative stress-related diseases
05
Safety considerations
Pyridoxine supplementation is generally safe but excessive doses can cause sensory neuropathyPatients with ALDH7A1 deficiency may be prone to metabolic imbalance and seizures if untreatedLack of enzyme activity leads to neurotoxicity and disruption of metabolic homeostasis in the CNS
06
Interacting drugs
Pyridoxine
07
Biomarkers
α-aminoadipic semialdehyde (AASA) accumulation in plasma, urine, or cerebrospinal fluid (used in diagnosis and patient stratification)Genetic testing for ALDH7A1 mutations
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