Gene: [01p363/MTHFR] 5,10-methylenetetrahydrofolate reductase (NADPH); homocystinuria II (due to deficiency of 5,10-methylenetetrahydrofolate reductase activity);
|
PAT |
Homocystinuria is the most common inborn error of folate metabolism. |
|
REF |
MUT "Goyette P &: AJHG, 56, 1052-1059, 1995 CLO,SEQ,LOC "Goyette P &: Nature Genet, 7, 195-200, 1994a CLO,SEQ,LOC "Goyette P &: Nature Genet, 7, 551, 1994b PAT "Haworth JC &: Am J Med Genet, 45, 572-576, 1993 PND "Wendel U &: J Pediatr, 102, 938-940, 1983 |
|
KEY |
mtbd, vit |
|
CLA |
coding, basic |
|
LOC |
01 p36.3 |
|
MIM |
MIM: 236250 |
|
EZN |
ENZYME: 1.5.1.20 |
