PUS3
Description
The PUS3 gene encodes a tRNA pseudouridine synthase, a crucial enzyme responsible for the modification of transfer RNA (tRNA) molecules. This modification, known as pseudouridylation, plays a vital role in tRNA structure, stability, and function, ultimately impacting protein synthesis and cellular processes. PUS3 is highly conserved across species, highlighting its fundamental importance in cellular biology. Understanding the intricacies of PUS3 function and its association with various diseases is crucial for advancing our knowledge of human health and disease.
Associated Diseases
Did you know?
Mutations in the PUS3 gene have been linked to a rare genetic disorder called "PUS3 deficiency", characterized by developmental delays and intellectual disabilities.
