Article
Mutations in steroid 21-hydroxylase (CYP21).
Human mutation - 1 Jan 1994
White P C, Tusie-Luna M T, New M I, Speiser P W
Abstract excerpt
The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes conversion of 17-hydroxyprogesterone and progesterone to...
Topics
- Adrenal Hyperplasia, Congenital
- Chromosomes, Human, Pair 6
- Gene Conversion
- Genotype
- Humans
- Mutation
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Pseudogenes
- Steroid 21-Hydroxylase