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Biochemistry
Top 15 enzymes
15
Other
Graduate
04/23/2009

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Term
HMG CoA Reductase
Definition
Rate controlling enzyme of mevalonate pathway - makes cholesterol, target of statins
Term
Glucose 6-P Dehydrogenase
Definition
Maintains level of NADPH -> glutathione -> fatty acids. Maintains RBCs. Deficiency (infection, fava beans, AAA, antibiotics, antipyretics, and antimalarials).
Term
Methylmalonyl CoA Mutase
Definition
Methylmalonyl CoA + B12 into Succinyl CoA. Deficiency = methyl melonic acidemia. (Aut.Rec.)
Term
UDP-Glucuronyltransferase
Definition
catalyzes glucuronidation to make substances more water soluble/easier to absorb/excrete.Crigler-Najjar type I:enzyme is completely absent. Type II: <10% of normal
Term
Homocysteine Methyltransferase
Definition
converts homocysteine to methionine (sulfur-containing proteinogenic amino acid, improper conversion = atherosclerosis)
Term
Dihydrofolate reductase
Definition
converts dihydrofolate into tetrahydrofolate,purines, thymidylic acid, and certain amino acids.
Term
HGPRT
Definition

purine metabolism, salvages purines from degraded DNA for renewed purine synthesis, catalyst in the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP.

Def. = Lesch-Nyhan/Juvenile Gout

Term
Branched chain keto acid dehydrogenase
Definition
responsible for the degradation of the branched chain amino acids. Inhibition = build up of BCAAs (leucine, isoleucine, and valine)= maple syrup urine disease (infants, brain damage, death)
Term
Gamma-glutamyl carboxylase
Definition
Oxidizes Vitamin K hydroquinone to Vitamin K 2,3 epoxide. Adds CO2 to protein-bound glutamic acid to form gamma-carboxyglutamic acid. Gene Mutations = vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency.
Term
Xanthine Oxidase
Definition
catalyzes the oxidation of hypoxanthine to xanthine, oxidation of xanthine to uric acid, catabolism of purines. Found in liver - released in liver damage. Allopurinol = xanthine oxidase inhibitor. Deficiency leads to high concentration of xanthine in blood and can cause renal failure.
Term
Hexosaminidase A
Definition
Autolysin enzyme involved in the hydrolysis of several molecules containing hexose. Deficiency = inability to properly hydrolyze certain sphingolipids, causing these lipids to accumulate over time in lysosomes = Tay Sachs & Sandhoff disease.
Term
Galactose-1-phosphate uridyl transferase
Definition
converts galactose to glucose. Deficiency may be serious: mental retardation, slow growth, cataracts, hepatomegaly. Limit lactose.
Term
Pyruvate Dehydrogenase
Definition
Transforms pyruvate into acetyl-CoA (used in the citric acid cycle to carry out cellular respiration). Links the glycolysis metabolic pathway to the citric acid cycle and releasing energy via FADH2.Def = low energy, lactate buildup, lactic acidosis in newborns: severe lethargy, poor feeding, tachypnea, death
Term
Acetyl-CoA carboxylase
Definition
catalyzes irreversible carboxylation of acetyl-CoA -> malonyl-CoA (for the biosynthesis of fatty acids). Target of anti-obesity and antibiotic drugs.
Term
Hormone-sensitive Lipase
Definition
Intracellular neutral lipase, hydrolyzes esters, hydrolyzes stored triglycerides to free fatty acids (short form in adipose), converts cholesteryl esters to free cholesterol for steroid hormone production (long form in testes).
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