CYP2R1 and CYP27A1 genes: An in silico approach to identify the deleterious mutations, impact on structure and their differential expression in disease conditions.

Abstract excerpt

Mutations in CYP2R1 and CYP27A1 involved in the conversion of Cholecalciferol into Calcidiol were associated with the impaired 25-hydroxylase activity therefore affecting the Vitamin D metabolism. Hence, this study attempted to understand the influence of genetic variations at the sequence and structural level via computational approach. The non-synonymous mutations retrieved from dbSNP database were assessed for...

Topics

Join the communities discussing this publication.

• Algorithms
• Cholestanetriol 26-Monooxygenase
• Computer Simulation
• Cytochrome P450 Family 2
• Gene Expression