DISEASES

Disease-gene associations mined from literature

Literature associating MTR and methylmalonic acidemia

MTR [ENSP00000355536]

5-methyltetrahydrofolate--homocysteine methyltransferase; 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); Belongs to the vitamin-B12 dependent methionine synthase family.

Synonyms:  MTR,  B1ANE3,  B7ZLW7,  Q99707,  B1ANE3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM