Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.

Abstract excerpt

Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia, an autosomic recessive disorder that affects the synthesis of aldosterone and cortisol. The disease presents a wide spectrum of clinical phenotypes as a result of the combination of different mutant alleles. Due to the adrenal-specific expression of the enzyme, the study of the functional effect of different mutations is only...

Topics

• Alleles
• Animals
• COS Cells
• Chlorocebus aethiops
• DNA, Complementary
• Gene Expression Regulation, Enzymologic
• Genes, Dominant
• Humans
• Multigene Family
• Mutation, Missense
• Pseudogenes
• Steroid 21-Hydroxylase