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

Смотрите также:

  • MTHFR: ген метилентетрагидрофолатредуктазы, гипергомоцистеинемия и ИБС