The MTHFR gene codes for an enzyme called methylenetetrahydrofolate reductase, which is needed to convert homocysteine to methionine. Mutations in this gene, such as MTHFR C677T and MTHFR A1298C, reduce the function of this enzyme and cause elevated homocysteine levels. High homocysteine levels can harm vascular health and increase the risk of thrombosis. These mutations are inherited in an autosomal recessive manner.
