Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.

ABSTRACT: Cholesterol is essential for development, growth, and maintenance of organisms. Mutations in cholesterol biosynthetic genes are embryonic lethal and few polymorphisms have been so far associated with pathologies in humans. Previous analyses show that lanosterol 14α-demethylase (CYP51A1) from the late part of cholesterol biosynthesis has only a few missense mutations with low minor allele frequencies and low association with pathologies in humans. The aim of this study is to evaluate the role of amino acid changes in the natural missense mutations of the hCYP51A1 protein. We searched SNP databases for existing polymorphisms of CYP51A1 and evaluated their effect on protein function. We found rare variants causing detrimental missense mutations of CYP51A1. Some missense variants were a

SUBMITTER: Rezen T 

PROVIDER: S-EPMC5492350 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature