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Target intelligence / Profile preview
Aldehyde dehydrogenase 4 family member A1 (ALDH4A1)
- Target
- ALDH4A1
- Molecular classification
- Enzyme, Oxidoreductase, Aldehyde Dehydrogenase
01
Overview
ALDH4A1 encodes pyrroline-5-carboxylate dehydrogenase, a mitochondrial enzyme that catalyzes the conversion of delta-1-pyrroline-5-carboxylate (P5C) to glutamate. This reaction is essential for proline degradation and maintaining amino acid balance. Mutations in ALDH4A1 cause hyperprolinemia type II, characterized by elevated proline and P5C levels, leading to neurological problems. ALDH4A1 is also linked to atherosclerosis as an auto-antigen.
- Other names
- ALDH4P5CDP5CDhMitochondrial delta-1-pyrroline-5-carboxylate dehydrogenasePyrroline-5-carboxylate dehydrogenase
02
Mechanism of action
N/A
03
Biological functions
Amino acid metabolismProline degradationGlutamate synthesisEnergy metabolism
04
Disease associations
Hyperprolinemia type IINeurological disordersAtherosclerosis
05
Safety considerations
Accumulation of proline and P5C due to enzyme deficiencyPotential neurological complications
06
Biomarkers
Proline levelsP5C levels
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