Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

Keyphrases

• Genotype-phenotype Correlation 100%
• CYP21A2 100%
• CYP21A2 mutations 100%
• Congenital Adrenal Hyperplasia 100%
• Salt Wasting 66%
• Simple Virilizing 66%
• Oxidoreductase 33%
• Autosomal Recessive 33%
• Missense mutation 33%
• Cause of Disease 33%
• Enzyme Activity 33%
• Monogenic 33%
• Hydrogen Bond Network 33%
• Substrate Binding 33%
• Cytochrome P450 (CYP450) 33%
• Loss Function 33%
• Gene mutation 33%
• Clinical Manifestations 33%
• Transmembrane Region 33%
• Structural Explanation 33%
• Humanized Models 33%
• In Silico Evaluation 33%
• Heme 33%
• Diverse Phenotype 33%
• Uncharacterized Genes 33%
• Hydrophobic Patch 33%
• Membrane Anchor 33%
• Hydrophobic Cluster 33%
• Salt Bridge 33%
• Steroid 21-hydroxylase 33%
• Clinical Consequences 33%
• Wasting Disease 33%

Biochemistry, Genetics and Molecular Biology

• Oxidoreductase 100%
• Enzyme 100%
• DNA Template 100%
• Crystal Structure 100%
• Missense Mutation 100%
• Enzyme Activity 100%
• Gene Mutation 100%
• Autosomal Recessive Disorder 100%
• Cytochrome P450 100%
• 21-Hydroxylase 100%