Inactivating mutations of this key enzyme in steroid hormone production cause hypertensive form of adrenal hyperplasia. A rare rearangement at this locus is found to be responsible for glucocorticoid remediable hypertension.
Mulatero P et al. (2004) Genetics of primary aldosteronism.
Lifton RP et al. (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
White PC et al. (1991) A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
Update: Sept. 26, 2018