Article
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
Biochimie - 1 Jun 2018
Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajendra
Abstract excerpt
Steroid 21-Hydroxylase deficiency is an inherited autosomal recessive metabolic disorder of the adrenal steroidogenesis caused due to mutations in the CYP21A2 gene in 95% of CAH cases. Notably, the de novo mutations arise at the rate of 3-5%, therefore the functional characterization is of utmost importance for categorization of the novel mutations. Herein, we have functionally characterized the CYP21A2 missense...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Animals
- COS Cells
- Child
- Chlorocebus aethiops
- Female
- Gene Expression Regulation
- Genotype
- Humans