Gene: [01p3/HMGCL] 3-hydroxy-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria); hydroxymethylglutaricaciduria (HMG-CoA lyase deficiency);


FUN

Systematic name: (S)-3-Hydroxy-3-methylglutaryl-CoA acetoacetate-lyase. Reaction catalyzed: (S)-3-Hydroxy-3-methylglutaryl-CoA = = acetyl-CoA + acetoacetate."

REF

IDN,FUN,PEP "Bachhawat BK &: JBC, 216, 727-?, 1955
LOC,MOL "Wang SP &: Mammal Genome, 4, 382-387, 1993

KEY

aac, mtbd

CLA

coding, basic

LOC

01 p36.1-35

MIM

MIM: 246450

EZN

ENZYME: 4.1.3.4

Смотрите также:

  • гидроксиметилглутарил-CoA-лиаза-HUGEN
  • гидроксиметилглутарил-КоА лиаза-HUGEN