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

Смотрите также:

  • Метионинсинтаза (метилтетрагидрофолатгомоцистеинметилтрансфераза[5-])