Katri Sarvi
Genetic polymorphisms play a significant role in individual variations in health outcomes and disease susceptibility. The CLSPN gene, encoding Claspin protein, is pivotal in the DNA damage response pathway, contributing to genome stability. Polymorphisms in CLSPN have been associated with various diseases, including cancer and neurodegenerative disorders. This article aims to explore the interaction between CLSPN gene polymorphisms and their implications for health and disease, shedding light on potential diagnostic and therapeutic avenues. The CLSPN gene, located on chromosome 1p13.3, encodes the Claspin protein, an essential regulator of the DNA Damage Response (DDR) pathway. Claspin functions as a mediator protein, facilitating the activation of the checkpoint kinase CHK1 in response to DNA damage, thereby orchestrating cell cycle arrest and DNA repair processes. Given its crucial role in maintaining genomic integrity, genetic variations in CLSPN have garnered significant attention for their potential implications in health and disease [
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Journal of Clinical & Medical Genomics received 391 citations as per Google Scholar report
