Aliases for MTR Gene
External Ids for MTR Gene
Previous GeneCards Identifiers for MTR Gene
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
GeneCards Summary for MTR Gene
MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase) is a Protein Coding gene. Diseases associated with MTR include Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type and Neural Tube Defects, Folate-Sensitive. Among its related pathways are Defective MTR causes methylmalonic aciduria and homocystinuria type cblG and Metabolism. GO annotations related to this gene include cobalamin binding and methionine synthase activity.
UniProtKB/Swiss-Prot for MTR Gene
Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity).