A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
M. Baquedano,M. Ciaccio,7 Authors,A. Belgorosky
2015 · DOI: 10.1210/jc.2014-2676
Journal of Clinical Endocrinology and Metabolism · 13 Citations
TLDR
In vitro and in silico experiments provided insight into the structure-function relationship of the 3β HSD2 protein suggesting the importance of the L239-Q251 loop for the catalytic activity of the otherwise stable 3βHSD2 enzyme.