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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FH
fumarate hydratase
Chromosome 1 Β· 1q43
NCBI Gene: 2271Ensembl: ENSG00000091483.9HGNC: HGNC:3700UniProt: A0A0S2Z4C3
212PubMed Papers
22Diseases
0Drugs
490Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTumor Suppressor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fumarate hydratase activitycytosolextracellular exosomefumarate metabolic processhereditary leiomyomatosis and renal cell cancerfumaric aciduriahereditary neoplastic syndromeInherited cancer-predisposing syndrome
✦AI Summary

Fumarate hydratase (FH) is a metabolic enzyme that catalyzes the dehydration of L-malate to fumarate, functioning in both cytosolic and mitochondrial compartments [UniProt]. FH plays dual roles in cellular metabolism and DNA repair. In metabolism, it participates in the tricarboxylic acid cycle, urea cycle, and arginine catabolism as a by-product of amino acid breakdown. In DNA repair, FH translocates to the nucleus following DNA damage and phosphorylation by PRKDC, accumulating at double-strand breaks where it catalyzes fumarate formation 1. This fumarate inhibits KDM2B histone demethylase activity, enhancing H3K36me2 dimethylation and promoting non-homologous end-joining 1. FH mutations impair this dual functionality. Loss-of-function FH mutations cause fumarate accumulation, which competitively inhibits Ξ±-ketoglutarate-dependent dioxygenases including histone demethylases and TET family hydroxylases, leading to genome-wide alterations in histone and DNA methylation that contribute to tumorigenesis 2. Clinically, FH deficiency presents as an autosomal recessive metabolic disorder and hereditary leiomyomatosis with renal cell carcinoma, where FH-deficient RCC represents a distinct cancer subtype 3. AKR1B10 and s-2-succinocysteine serve as diagnostic biomarkers for FH-deficient RCC, with AKR1B10 demonstrating 100% sensitivity and 91.4% specificity 3.

Sources cited
1
FH translocates to nucleus after DNA damage, accumulates at DSBs, catalyzes fumarate formation to inhibit KDM2B, and enhances H3K36me2 promoting NHEJ
PMID: 26237645
2
FH mutations cause fumarate accumulation that inhibits Ξ±-KG-dependent dioxygenases including histone demethylases and TET hydroxylases, altering genome-wide histone and DNA methylation in tumorigenesis
PMID: 22677546
3
AKR1B10 serves as diagnostic biomarker for FH-deficient RCC with 100% sensitivity and 91.4% specificity; s-2-succinocysteine and FH immunohistochemistry also informative
PMID: 37580017
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
hereditary leiomyomatosis and renal cell cancerOpen Targets
0.84Strong
fumaric aciduriaOpen Targets
0.82Strong
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
Multiple cutaneous leiomyomasOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
tricarboxylic acid cycle disorderOpen Targets
0.46Moderate
kidney neoplasmOpen Targets
0.44Moderate
renal carcinomaOpen Targets
0.42Moderate
ovarian cancerOpen Targets
0.40Weak
neuroendocrine carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
endometrial carcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
hereditary pheochromocytoma-paragangliomaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.35Weak
Autosomal dominant cerebellar ataxia type 1Open Targets
0.34Weak
Cutaneous leiomyomaOpen Targets
0.34Weak
Fumarase deficiencyUniProt
Hereditary leiomyomatosis and renal cell cancerUniProt
Pathogenic Variants490
NM_000143.4(FH):c.1108+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome|FH-related disorder|Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026
NM_000143.4(FH):c.322C>T (p.Gln108Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Cutaneous leiomyoma;Uterine leiomyoma|not provided|Fumarase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 108
NM_000143.4(FH):c.912_918del (p.Phe305fs)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|not provided|Hereditary cancer-predisposing syndrome|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 305
NM_000143.4(FH):c.478A>G (p.Arg160Gly)Pathogenic
Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 160
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 343
NM_000143.4(FH):c.521C>G (p.Pro174Arg)Pathogenic
Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|FH-related disorder|Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 174
NM_000143.4(FH):c.700A>G (p.Thr234Ala)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 234
NM_000143.4(FH):c.404A>G (p.His135Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 135
NM_000143.4(FH):c.634C>T (p.Gln212Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 212
NM_000143.4(FH):c.379-2A>TPathogenic
Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026
NM_000143.4(FH):c.301C>T (p.Arg101Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 101
NM_000143.4(FH):c.1391-269A>GPathogenic
not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|FH-related disorder|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 340
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)Pathogenic
not provided|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing syndrome|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 397
NM_000143.4(FH):c.905-2A>CPathogenic
not provided|Fumarase deficiency
β˜…β˜…β˜†β˜†2026
NM_000143.4(FH):c.1390+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026
NM_000143.4(FH):c.273dup (p.Val92fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 92
NM_000143.4(FH):c.1293del (p.Glu432fs)Pathogenic
not provided|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 432
NM_000143.4(FH):c.698G>A (p.Arg233His)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|See cases|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer|Spinocerebellar ataxia 45
β˜…β˜…β˜†β˜†2026β†’ Residue 233
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 365
View on ClinVar β†—
Related Genes
FAHProtein interaction100%PDHA1Protein interaction100%OGDHProtein interaction100%OATProtein interaction100%OGDHLProtein interaction100%TTF2Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Liver
77%
Brain
33%
Lung
15%
Bone Marrow
12%
Ovary
12%
Gene Interaction Network
Click a node to explore
FHFAHPDHA1OGDHOATOGDHLTTF2
PROTEIN STRUCTURE
Preparing viewer…
PDB5UPP Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.60Moderately Constrained
pLIβ“˜
0.27Tolerant
Observed/Expected LoF0.41 [0.29–0.60]
RankingsWhere FH stands among ~20K protein-coding genes
  • #1,959of 20,598
    Most Researched212 Β· top 10%
  • #111of 5,498
    Most Pathogenic Variants490 Β· top 5%
  • #4,095of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedFH
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Follicular helper CD4 T cells (TFH).
PMID: 21314428
Annu Rev Immunol Β· 2011
1.00
2
The
PMID: 33418990
Genes (Basel) Β· 2021
0.90
3
Inhibition of Ξ±-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
PMID: 22677546
Genes Dev Β· 2012
0.80
4
Influenza vaccination stimulates maturation of the human T follicular helper cell response.
PMID: 39164477
Nat Immunol Β· 2024
0.76
5
Spinal decompression with patient-specific guides.
PMID: 35017055
Spine J Β· 2022
0.72