Aliases:This biomarker is also known as:
- methylenetetrahydrofolate reductase,
- EC 18.104.22.168,
- 5,10-methylenetetrahydrofolate reductase (NADPH),
- methylenetetrahydrofolate reductase (NAD(P)H),
The MTHFR gene product catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. This gene is involved in susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia.
|QA State:||Under Review|
There are no datasets associated with this biomarker.