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Target intelligence / Profile preview
Fumarylacetoacetate hydrolase domain-containing protein 2A (FAHD2A)
- Target
- FAHD2A
- Molecular classification
- Enzyme, Tautomerase, Fumarylacetoacetate hydrolase domain protein family
01
Overview
Fumarylacetoacetate hydrolase domain-containing protein 2A (FAHD2A) is a mitochondrial enzyme that exhibits oxaloacetate tautomerase activity, converting enol-oxaloacetate—a potent inhibitor of succinate dehydrogenase—back to its physiological keto form. This repair mechanism is essential for maintaining aerobic respiration efficiency by preventing the inhibition of succinate dehydrogenase, a critical enzyme in the tricarboxylic acid (TCA) cycle. FAHD2A belongs to the fumarylacetoacetate hydrolase domain family, which is highly conserved across species, and plays a role in metabolite repair. Pathogenic mutations in FAHD2A have been associated with primary ciliary dyskinesia and cardiac valvular dysplasia, with possible additional roles in neurodegenerative and lysosomal storage diseases based on genetic association studies.
- Other names
- Oxaloacetate tautomerase FAHD2A, mitochondrialCGI-105Fumarylacetoacetate hydrolase domain containing 2AFumarylacetoacetate hydrolase domain-containing protein 2A
02
Biological functions
Oxaloacetate tautomerase activityOxaloacetate metabolic processMetabolite repair in the TCA cyclePrevention of succinate dehydrogenase inhibition
03
Disease associations
Ciliary dyskinesia, primary, 43Cardiac valvular dysplasia, X-linkedParkinson disease (association)Lysosomal storage disease (association)Alzheimer disease (association)
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