Article
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
Journal of biomedical science - 8 Jan 2009
Dubey Sudhisha, Idicula-Thomas Susan, Anwaruddin Mohammad, Saravanan Chinnaraj, Varma R Raveendra, Maitra Anurupa
Abstract excerpt
BACKGROUND: Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in CYP21A2 gene and its structural and functional consequences on P450c21 protein by molecular...
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