Molecular homologous modeling of 3B-HSD2 mutant enzyme: structure-function aspects of Pro222GLN mutation correlates with the experimental data from a patient with congenital adrenal hyperplasia.
No hay miniatura disponible
Fecha
Título de la revista
ISSN de la revista
Título del volumen
Editor
Resumen
Descripción
Short abstract: We describe the mutation Pro222GIn in HSD3B2 gene on a patient with congenital adrenal hyperplasia. Molecular modeling of 3B-HSD2 mutant allowed us to identify critical role of residue Pro222 on the folding pattern and catalytic activity of the enzyme. The proposed models correlate with the experimental data previously reported.
ISMB, X-MEETING 2006. Poster D-12.
ISMB, X-MEETING 2006. Poster D-12.
Palabras clave
Mutação gênica, Hiperplasia adrenal congenital, Modelagem molecular, Biologia molecular, Mutation, Hyperplasia, Molecular Biology