Gene: [01q43/MTR] 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase; tetrahydropteroylglutamate methyltransferase (methionine synthase); homocystinuria-megaloblastic anemia (due to defect in cobalamin metabolism, cbl G type; MIM:250940);
COM | Li-1996 assigned the MTR gene to 1q42.3-44. Leclerc-1996 mapped the gene to 1q43." |
FUN | The reaction catalyzed: 5-methyltetrahydrofolate + L-homocysteine = = tetrahydrofolate + L-methionine." |
REF | HIS,PAT,MEB
"Arakawa &: Tohoku J Exp Med, 93, 1-22, 1967 MUT "Gulati S &: Hum Mol Genet, 5, 1859-1865, 1996 CLO,SEQ,STR,MUT "Leclerc D &: Hum Mol Genet, 5, 1867-1874, 1996 CLO,SEQ,STR,LOC "Li YN &: Hum Mol Genet, 5, 1851-1858, 1996 LOC,MAP "Mellman IS &: PNAS, 76, 405-409, 1979 |
SWI | SWISSPROT: Q99707 |
KEY | hem, aac, mtbd, vit |
CLA | coding, basic |
LOC | 01 q43 |
MIM | MIM: 156570 |
EZN | ENZYME: 2.1.1.13 |
