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FH (Fumarate hydratase, mitochondrial) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Skin cancer, Papillary renal cell carcinoma and 1 more.
Catalyses the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other. Catalyses the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH.
CIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Erlotinib and Bevacizumab. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.67, somatic mutation 0.95, genetic literature 0.85).
In plain words · FH (Fumarate hydratase, mitochondrial) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Skin cancer, Papillary renal cell carcinoma and 1 more.
FH (Fumarate hydratase, mitochondrial) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Skin cancer, Papillary renal cell carcinoma and 1 more.
Catalyses the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other.
No product in this corpus aims at FH yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
Germline variant: UniProt lists [Isoform Cytoplasmic] under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FH: RNA tissue enhanced (liver 253 nTPM); high antibody staining in 13 normal tissues; highest cancer staining colorectal cancer (11 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Skin cancer (all types), Renal cell carcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (hereditary leiomyomatosis and renal cell cancer, hereditary neoplastic syndrome). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt P07954; Human Protein Atlas FH tissue; Open Targets ENSG00000091483 associations
First described 1986. Earliest sequence paper UniProt cites for the protein: Kinsella B.T. et al, Biosci. Rep, 1986, "Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver". Source.
Sources: HGNC HGNC:3700 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P07954 (protein name, function text, keywords and locations (REST API)); CIViC gene FH (2 evidence items, 0 assertions, 2 variants; diseases: Papillary Renal Cell Carcinoma, Hereditary Renal Cell Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000091483 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.51, neuroendocrine neoplasm 0.54, skin cancer 0.51 (GraphQL API, CC0))
Catalyses the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other. Catalyses the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH. Catalyses the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism. Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ). Location: Mitochondrion; Cytoplasm, cytosol; Nucleus; Chromosome (UniProt). Locus 1q43 (HGNC).
RNA: tissue enhanced (liver 253 nTPM), detected in all normal tissues.
Medium: Appendix, Breast, Bronchus, Caudate, Cerebral cortex, Cervix, Endometrium, Esophagus.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"FH" OR ABSTRACT:"FH" OR TITLE:"fumarate hydratase" OR ABSTRACT:"fumarate hydratase" OR TITLE:"Fumarate hydratase, mitochondrial" OR ABSTRACT:"Fumarate hydratase, mitochondrial") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about FH, not a curated reading list.
Shares Papillary renal cell carcinoma, Skin cancer (all types), CIViC, Open Targets Platform.
Shares Papillary renal cell carcinoma, Skin cancer (all types), Melanoma, Open Targets Platform.
Shares Papillary renal cell carcinoma, CIViC.
Shares Papillary renal cell carcinoma, CIViC, Open Targets Platform.
Shares Papillary renal cell carcinoma, CIViC, Open Targets Platform.
Shares Papillary renal cell carcinoma, CIViC, Open Targets Platform.
Shares Fumarate hydratase-deficient renal cell carcinoma (HLRCC-associated), Papillary renal cell carcinoma.
Shares Papillary renal cell carcinoma, Open Targets Platform.