# MTHFR

Source: https://onco.cc/targets/mthfr/  
OnCo record `mthfr` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase (NADPH)
- Tags: cancer-genes-wave
- Symbol: MTHFR
- Class: enzyme
- 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).
- Where found: Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease; Prostate cancer: CIViC evidence names this disease

## Notes

- 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.

## Sources

- HGNC HGNC:7436: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436
- UniProt P42898: https://www.uniprot.org/uniprotkb/P42898/entry
- NCBI Gene 4524: https://www.ncbi.nlm.nih.gov/gene/4524
- Ensembl ENSG00000177000: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177000

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/)
- cancers: [Gastric & gastro-oesophageal junction cancer](https://onco.cc/cancers/gastric/), [Prostate cancer](https://onco.cc/cancers/prostate/)

---
JSON: https://onco.cc/api/v1/entities/mthfr.json