Aliases for MTHFR Gene
External Ids for MTHFR Gene
Previous GeneCards Identifiers for MTHFR Gene
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]
GeneCards Summary for MTHFR Gene
MTHFR (Methylenetetrahydrofolate Reductase) is a Protein Coding gene. Diseases associated with MTHFR include Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity and Neural Tube Defects, Folate-Sensitive. Among its related pathways are One carbon pool by folate and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include NADP binding. An important paralog of this gene is MTR.
UniProtKB/Swiss-Prot Summary for MTHFR Gene
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.