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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.
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.
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.
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.
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.
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.
Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MTHFR: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas MTHFR tissue; Open Targets ENSG00000177000 associations
First described 1994. Earliest sequence paper UniProt cites for the protein: Goyette et al, Nat. Genet, 1994, "Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification". Source.
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))
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Appendix, Bone marrow, Caudate, Cerebellum, Cerebral cortex, Colon, Gallbladder.
Medium only: breast cancer, head and neck cancer, liver cancer, lymphoma.
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:"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.