BHE13703689
MTRR encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Methionine synthase reductase functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in MTRR can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of MTRR results in multiple transcript variants.
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