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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAHD1
fumarylacetoacetate hydrolase domain containing 1
Chromosome 16 · 16p13.3
NCBI Gene: 81889Ensembl: ENSG00000180185.13HGNC: HGNC:14169UniProt: Q6P587
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcytosolacetylpyruvate hydrolase activityfumarylpyruvate hydrolase activitypremature ovarian failure 23spermatogenic failure 22neurodegenerative diseaseazoospermia
✦AI Summary

FAHD1 is a mitochondrial metabolic enzyme with dual catalytic functions critical for oxidative metabolism. Structurally, FAHD1 contains a fumarylacetoacetate hydrolase domain and functions primarily as an oxaloacetate tautomerase that converts enol-oxaloacetate to its physiological keto form, preventing succinate dehydrogenase inhibition and maximizing aerobic respiration efficiency 1. FAHD1 additionally acts as an oxaloacetate decarboxylase, catalyzing oxaloacetate conversion to pyruvate and CO₂ as a regulatory enzyme in the TCA cycle 2, and displays acylpyruvase activity on acetylpyruvate and fumarylpyruvate 2. Catalytically, FAHD1's active site features a flexible helical 'lid' that undergoes substrate-driven conformational changes, with key residues (H30, E33, K123) contributing to distinct catalytic mechanisms for both activities 2. FAHD1 depletion impairs mitochondrial electron transport and ATP-coupled respiration, inducing premature cellular senescence via metabolic dysfunction independent of DNA damage 3. Conversely, FAHD1 overexpression reduces reactive oxygen species levels and correlates with aggressive phenotypes in hepatocellular carcinoma, where it drives pyruvate-hyperactive metabolic states and poor prognosis 4. These findings establish FAHD1 as a critical regulator of mitochondrial metabolism with implications in aging and cancer pathogenesis.

Sources cited
1
FAHD1 functions as an oxaloacetate tautomerase converting enol-oxaloacetate to keto-oxaloacetate, preventing succinate dehydrogenase inhibition and maximizing aerobic respiration
PMID: 38287013
2
FAHD1 acts as oxaloacetate decarboxylase and acylpyruvase with bifunctional catalytic activity; structural basis with flexible helical lid and catalytic residues H30, E33, K123
PMID: 30348641
3
FAHD1 depletion inhibits mitochondrial electron transport and ATP-coupled respiration, inducing premature senescence without DNA damage
PMID: 28286170
4
FAHD1 overexpression drives pyruvate-hyperactive metabolism in hepatocellular carcinoma, associates with poor prognosis and reduced immunotherapy responsiveness
PMID: 40814172
5
FAHD1 regulates mitochondrial function and cellular senescence; FAHD1 silencing reduces electron transport chain activity
PMID: 30055189
6
FAHD1 overexpression decreases reactive oxygen species levels in osteosarcoma cells; T192S hyperactive variant found in oxidative stress-resistant organisms
PMID: 38649439
Disease Associationsⓘ20
premature ovarian failure 23Open Targets
0.45Moderate
spermatogenic failure 22Open Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.36Weak
azoospermiaOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
periodontitisOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
synovial sarcomaOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
agingOpen Targets
0.00Suggestive
non-Hodgkins lymphomaOpen Targets
0.00Suggestive
retinoblastomaOpen Targets
0.00Suggestive
testicular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAHD2AShared pathway100%FAHD2BShared pathway100%SDHDProtein interaction100%SDHBProtein interaction100%SDHCProtein interaction100%FAHProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Heart
67%
Brain
38%
Lung
23%
Bone Marrow
21%
Ovary
18%
Gene Interaction Network
Click a node to explore
FAHD1FAHD2AFAHD2BSDHDSDHBSDHCFAH
PROTEIN STRUCTURE
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PDB6FOH · 1.56 Å · X-ray
View on RCSB ↗
RankingsWhere FAHD1 stands among ~20K protein-coding genes
  • #9,201of 20,598
    Most Researched47
Genes detectedFAHD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.
PMID: 30055189
Mech Ageing Dev · 2019
1.00
2
Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.
PMID: 28286170
Exp Gerontol · 2017
0.90
3
FAHD1 and mitochondrial metabolism: a decade of pioneering discoveries.
PMID: 39642098
FEBS J · 2025
0.80
4
Catalytic activity of FAHD1 correlates with nuclear morphology and proteomic states in human osteosarcoma cells.
PMID: 41286267
Sci Rep · 2025
0.70
5
Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.
PMID: 38649439
Sci Rep · 2024
0.60