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Updated: Jun 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Autophagy-related gene BECN1 single nucleotide polymorphisms in diseases
Sargeet Kaur1, Jitendraa Vashistt1, Ajay Kumar2
1Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat, Solan, Himachal Pradesh, 173 234, India.
Abstract:
Autophagy is a cytoprotective process that operates within a cell to maintain cellular homeostasis. An array of multiple proteins is involved to mediate this conserved cellular process. Among these, Beclin 1 protein encoded by BECN1 gene plays a crucial role during the initiation of autophagy. It acts as a molecular platform onto which multiple proteins interact to mediate autophagy initiation. The functioning of such proteins has reportedly been influenced by the molecular markers such as Single Nucleotide Polymorphisms (SNPs) present within the encoding gene. The SNPs within the autophagy gene have been known to influence the functioning of autophagy proteins which further is involved in various diseases. Studies have reported that the SNPs within the BECN1 are involved in various diseases. This report outlines the findings of all the existing research on the role of SNPs within BECN1.
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