MTHFR
MTHFR (methylenetetrahydrofolate reductase) is a flavoprotein oxidoreductase that converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. In doing so it links the folate cycle to the methionine cycle, and it is a frequent subject of genetic and metabolic research. Browse Assay Genie's current range of MTHFR research reagents below, or read on for the biology behind the target.
MTHFR catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The product, 5-methyltetrahydrofolate, serves as a cosubstrate for the remethylation of homocysteine to methionine. This places the enzyme at a key regulatory connection between the folate cycle and the methionine cycle, so changes in its activity can influence how one-carbon units are routed through these linked pathways.
The MTHFR gene encodes a protein that belongs to the methylenetetrahydrofolate reductase family. HGNC classifies it within the flavoproteins and oxidoreductases gene groups, and the enzyme carries the EC number 1.5.1.53. UniProt does not currently annotate a subcellular location for the protein. A mouse ortholog, Mthfr, is recognised, which allows the pathway to be studied in murine models.
The name has been used in several forms. Earlier names include 5,10-methylenetetrahydrofolate reductase (NADPH) and methylenetetrahydrofolate reductase (NAD(P)H), reflecting the cofactor used in the reaction. No alternative gene symbols are recorded.
Interest in the MTHFR gene is driven largely by its disease associations. According to the NCBI Gene summary, genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukaemia. Mutations in the gene are associated with methylenetetrahydrofolate reductase deficiency. Researchers therefore study MTHFR protein levels and activity alongside folate, homocysteine and methionine metabolism.
MTHFR forms a key regulatory connection between the folate and methionine cycles, supplying the cosubstrate used to remethylate homocysteine.
The enzyme produces 5-methyltetrahydrofolate, a cosubstrate for converting homocysteine to methionine, making it central to this pathway.
Variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukaemia.
Mutations in the MTHFR gene are associated with methylenetetrahydrofolate reductase deficiency, an inherited metabolic condition.
MTHFR catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This product is a cosubstrate for remethylating homocysteine to methionine, so the enzyme forms a key regulatory connection between the folate cycle and the methionine cycle.
HGNC lists the full name as methylenetetrahydrofolate reductase, and UniProt uses methylenetetrahydrofolate reductase (NADPH). Previous names include 5,10-methylenetetrahydrofolate reductase (NADPH) and methylenetetrahydrofolate reductase (NAD(P)H). No alternative gene symbols are recorded. The enzyme is EC 1.5.1.53.
Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukaemia, and mutations cause MTHFR deficiency. Mouse has an ortholog, Mthfr; check the datasheet of any product for its validated reactivity.
Other folate-cycle enzymes, one-carbon metabolism proteins and homocysteine pathway markers may be listed here as pages become available.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P42898; product specifications from Assay Genie datasheets.