Harmonizome 3.0

methylenetetrahydrofolate reductase (NAD(P)H)

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term mthfr in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for MTHFR from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the MTHFR gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the MTHFR gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Mthfr Deficiency, Thermolabile Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From WikiPathways Pathways 2024

proteins participating in the MTHFR deficiency pathway from the WikiPathways Pathways 2024 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the MTHFR THERMOLABILE POLYMORPH phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.