Full name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MSR; cblE

Summary: This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein 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 this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Expression: Ubiquitous expression in lung (RPKM 14.2), kidney (RPKM 10.4) and 25 other tissues

Gene size: 50255bp

Exon count: 21