EC 4.2.1.22 CBS 1 reactions
Homocystinuria: marfanoid habitus, DOWNWARD lens dislocation, thrombosis; B6-responsive forms
Enzymes & cofactors
Search by name, gene symbol, EC number or the disorder it causes. Open any enzyme to see every reaction it catalyses, what accelerates it and what inhibits it.
EC 1.14.14.1 CYP genes 1 reactions
CYP3A4 handles ~50% of drugs; major site of drug-drug interactions
EC 2.3.1.20 DGAT1 / DGAT2 1 reactions
EC 2.5.1.21 FDFT1 1 reactions
EC 3.1.3.11 FBP1 1 reactions
FBPase deficiency: fasting hypoglycaemia, lactic acidosis, ketosis
EC 2.7.7.12 GALT 1 reactions
Classic galactosaemia: cataracts, jaundice, E. coli sepsis, intellectual disability
EC 6.3.2.2 GCLC 1 reactions
Rate-limiting for glutathione synthesis; feedback-inhibited by GSH
EC 1.1.1.49 G6PD 1 reactions
G6PD deficiency: oxidative haemolysis, Heinz bodies, bite cells, favism
EC 2.4.2.14 PPAT 1 reactions
Committed step of purine synthesis; feedback-inhibited by AMP/GMP; azaserine site
EC 2.4.1.1 PYGM / PYGL 1 reactions
McArdle disease (GSD V, muscle); Hers disease (GSD VI, liver)
EC 2.4.1.11 GYS1/GYS2 1 reactions
GSD 0: low glycogen, fasting ketotic hypoglycaemia
EC 1.14.14.18 HMOX1 1 reactions
Produces biliverdin, CO and Fe2+; rate-limiting for heme catabolism
EC 1.1.1.34 HMGCR 1 reactions
Target of statins; SREBP-2 regulated
EC 1.1.1.205 IMPDH1 / IMPDH2 1 reactions
EC 1.1.1.41 IDH3 1 reactions
Rate-limiting TCA step; IDH1/2 neomorphic mutations produce 2-hydroxyglutarate in glioma/AML
EC 2.3.1.37 ALAS1/ALAS2 1 reactions
ALAS2 defects: X-linked sideroblastic anaemia (B6-responsive)
EC 2.3.3.10 HMGCS2 1 reactions
Rate-limiting for ketogenesis; induced by fasting/PPAR-alpha
EC 1.14.16.1 PAH 1 reactions
Phenylketonuria: musty odour, intellectual disability, hypopigmentation; BH4 defects cause malignant PKU
EC 3.1.1.4 PLA2G 1 reactions
Suppressed indirectly by corticosteroids (annexin/lipocortin)
EC 3.1.1.4 PLA2G 1 reactions
Suppressed indirectly by corticosteroids (annexin/lipocortin)