Enzymes mutations

Cosme J, Johnson EF. Engineering microsomal cytochrome P450 2C5 to be a soluble, monomeric enzyme. Mutations that alter aggregation, phospholipid dependence of catalysis, and membrane binding. /FtoZ Chem 2000 275 2545-53. 

Ingelman-Sundberg, M., Genetic susceptibility to adverse effects of drugs and environmental toxicants. The role of the CYP family of enzymes. Mutat Res, 2001.482(1-2) 11-9. 

Disorder trivial name Gene/enzyme mutation Gene location OMIM number... 

Hu, Y., Su, L. and Snow, E.T. (1998) Arsenic toxicity is enzyme specific and its affects on ligation are not caused by the direct inhibition of DNA repair enzymes. Mutation Research-DNA Repair, 408(3), 203-18. 

Strange RC, Spiteri MA, Ramachandran S, Fryer AA. Glutathione-S-transfer-ase family of enzymes. Mutat Res 2001 482(1—2) 21—26. 

Fujie K, Ito Y, Maeda S. 1992. Acute cytogenetic effect of benzene on rat bone marrow cells in vivo and the effect of inducers or inhibitors of drug-metabolizing enzymes. Mutat Res 298(2) 81-90. 

Cadet J, Bourdat A-G, D Ham C, Duarte V, Gasparutto D, Romieu A, Ravanat J-L. (2000) Oxidative base damage to DNA Specificity of base excision repair enzymes. Mutation Res Rev Mutation Res 462 121-128. 

Italic type indicates the various collagen polypeptides and an enzyme mutation described in this... 

Thornton-Manning JR, Dahl AR. 1997. Metabolic capacity of nasal tissue interspecies comparisons of xenobiotic-metabolizing enzymes. Mutat Res 380 43-59. 

T. cruzi is not responsive to SAM. The C-terminal domain is also important for maintaining the oligomeric state of the protein. The yeast enzyme is a homo-octamer and deletion of the C-terminal regulatory domain leads to the formation of highly active dimeric enzymes.Mutations in this domain correlate with hereditary diseases. 

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