Article
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
Biochemical and biophysical research communications - 31 Jan 1992
Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K
Abstract excerpt
The gene for steroid 18-hydroxylase (P-450C18) has been recently assigned to encode corticosterone methyl oxidases Type I and Type II which were previously postulated to catalyze the final two steps in the biosynthesis of aldosterone in humans. Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of...
Topics
- Aldosterone
- Amino Acid Sequence
- Base Sequence
- Codon
- Cytochrome P-450 CYP11B2
- Cytochrome P-450 Enzyme System
- Exons
- Female
- Humans
- Male
- Mixed Function Oxygenases