MTHFR
MTHFR (Methylenetetrahydrofolate reductase (NADPH)) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Prostate cancer.
Overview
Catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Represents a key regulatory connection between the folate and methionine cycles.
CIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Fluorouracil.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · MTHFR (Methylenetetrahydrofolate reductase (NADPH)) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Prostate cancer.
- 1 · What it is
MTHFR (Methylenetetrahydrofolate reductase (NADPH)) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Prostate cancer.
- 2 · What goes wrong in cancer
Catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Represents a key regulatory connection between the folate and methionine cycles.
- 3 · How drugs use it
No product in this corpus aims at MTHFR yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
External identifiers
Sources: HGNC HGNC:7436 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P42898 (protein name, function text, keywords and locations (REST API)); CIViC gene MTHFR (3 evidence items, 0 assertions, 1 variants; diseases: Stomach Cancer, Prostate Adenocarcinoma, Rectum Cancer (GraphQL API, CC0))
Biology
Catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Represents a key regulatory connection between the folate and methionine cycles. Locus 1p36.22 (HGNC).
- Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease
- Prostate cancer: CIViC evidence names this disease
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 1 therapies; CIViC holds 3 clinical evidence items on its variants. 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: Rectum Cancer.
Latest papers
topQuery for this target: (TITLE:"MTHFR" OR ABSTRACT:"MTHFR" OR TITLE:"methylenetetrahydrofolate reductase" OR ABSTRACT:"methylenetetrahydrofolate reductase" OR TITLE:"Methylenetetrahydrofolate reductase NADPH" OR ABSTRACT:"Methylenetetrahydrofolate reductase NADPH") 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 MTHFR, not a curated reading list.