Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene (DHCR7) encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis pathway....

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Bibliographic Details
Main Authors: Yunhui Peng, Rebecca Myers, Wenxing Zhang, Emil Alexov
Format: Article
Language:English
Published: MDPI AG 2018-01-01
Series:International Journal of Molecular Sciences
Subjects:
Smith-Lemli-Opitz syndrome
missense mutations
DHCR7
binding free energy
folding free energy
KNN classification
molecular dynamics simulation
MM/PBSA
Online Access:http://www.mdpi.com/1422-0067/19/1/141

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http://www.mdpi.com/1422-0067/19/1/141

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