EC Number   |
Application |
Reference |
|---|
    1.14.14.16 | biotechnology |
the CYP21 expression model system using resting Schizosaccharomyces pombe cells can be used for biotransformations |
715690 |
| 1.14.14.16 | medicine |
dominant negative effect of mutant enzymes involved in congenital adrenal hyperplasia on wild-type alleles |
659781 |
| 1.14.14.16 | medicine |
localization of mutations leading to congenital adrenal hyperplasia within the protein. The severity of the congenital adrenal hyperplasia clinical manifestations can be directly correlated with the degree of mutation-induced damage in terms of protein fold stability and active site changes in the structural model. The nonclassical phenotype is typically associated with mutations that have a compensatory effect, i.e. H-bonding replacing hydrophobic interactions and vice versa |
745776 |
| 1.14.14.16 | medicine |
molecular analysis of enzyme gene from Middle European patients with congenital adrenal hyperplasia. CYP21 enzyme gene deletion and In2 and I172N mutation account for 72.7% of the affected alleles in the whole study group. With exception of I172N and P30L mutations, a good genotype-phenotype correlation is observed. Using high-resulotion genotyping, the causative mutation could be identified in 341 out of 348 patients |
673436 |
| 1.14.14.16 | medicine |
study on the effects of enzyme-specific monoclonal antibodies on enzyme activity by comparative structural modelling. Antibodies with epitopes located distant from the enzyme active sites have no effect on activity. An antibody with epitope close to the redox binding protein binding site results in almost 50% decrease in activity |
673435 |
