FH
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.
Overview
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).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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.
- 3 · How drugs use it
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.
External identifiers
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))
Biology
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).
- Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)
- Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)
- Papillary renal cell carcinoma: CIViC evidence names this disease
- Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword "DNA repair". Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Hereditary Renal Cell Carcinoma.
Latest papers
topQuery 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.
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