PNKP is a gene encoding polynucleotide kinase 3′-phosphatase. This protein plays role in the repair of damaged DNA. Mutations in the PNKP gene can impact cellular function and contribute to disease.
Pairnomix’s personalized genetic evaluation services are designed to identify clinically approved drugs that could be repurposed for the treatment of rare genetic conditions. We create a laboratory model of an individual’s genetic mutation and perform experiments to understand the impact of that mutation on cellular function. We then test more than 1,300 drugs against the modeled mutation for their abilities to reverse the mutation’s functional consequence. As a result, we can identify drugs that may have the potential to provide effective treatment. We provide our findings to the individual’s physician so together they can make better-informed treatment decisions. Click here to learn more about our services.
Understanding the precise effects of PNKP mutations can be difficult to determine because they are not easily measured in cellular models. As a result, we may be limited in our abilities to provide research services for mutations in this gene at this time. But genetic research capabilities are evolving all the time; if you have any interest or inquiries about this gene, please contact us.