Article
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
Human genetics - 1 Mar 2000
Mornet E, Gibrat J F
Abstract excerpt
In order to better understand the disease-causing role of missense mutations found in the CYP21 gene from patients affected with congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we built two three-dimensional (3D) models of human P450c21 using all known 3D structures of P450s. For each residue affected by a missense mutation, its location in the 3D structure and the putative changes...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Amino Acid Sequence
- Cytochrome P-450 Enzyme System
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Structure, Secondary
- Protein Structure, Tertiary
- Sequence Alignment
- Steroid 21-Hydroxylase