Article
Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
The Journal of steroid biochemistry and molecular biology - 1 Nov 2005
Patocs Attila, Liko István, Varga Ibolya, Gergics Peter, Boros Andras, Futo Laszlo, Kun Imre, Bertalan Rita, Toth Szilvia, Pazmany Tamas, Toth Miklós, Szücs Nikolette, Horanyi Janos, Glaz Edit, Racz Karoly
Abstract excerpt
The CYP17 gene, located on chromosome 10q24-q25, encodes the cytochrome P450c17 enzyme. Mutations of this gene cause the 17alpha-hydroxylase/17,20-lyase deficiency, which is a rare, autosomal recessive form of congenital adrenal hyperplasia. Approximately 50 different mutations of the CYP17 gene have been described, of which some mutations have been identified in certain ethnic groups. In this study, we present...
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