MTHFR
MTHFR (methylenetetrahydrofolate reductase) encodes the enzyme that irreversibly converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulating form of folate used to remethylate homocysteine into methionine. Common variants rs1801133 (C677T) and rs1801131 (A1298C) reduce enzyme activity and are studied for their effects on folate processing, homocysteine levels, and one-carbon/methylation metabolism.
Traits MTHFR shapes
Markers (rsIDs)
Reference databases
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