Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia

@article{NevesCruz2019MeasuringTS,
  title={Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia},
  author={Jorddy Neves Cruz and Kauȇ Santana da Costa and Tarc{\'i}sio Andr{\'e} Amorim de Carvalho and Nelson Alberto Nascimento de Alencar},
  journal={Journal of Biomolecular Structure and Dynamics},
  year={2019},
  volume={38},
  pages={1425 - 1434}
}
Abstract Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of cases of congenital adrenal hyperplasia. This metabolic disease exhibits three clinical forms: salt-wasting, simple virilizing, and non-classical form, which are divided according to the degree of severity. In the present study, structural… 
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