PUS1

The PUS1 gene encodes pseudouridine synthase 1, an enzyme responsible for catalyzing pseudouridylation, the most abundant post-transcriptional modification of RNA. This process stabilizes RNA structures and regulates functions of various RNA molecules including tRNAs, rRNAs, and snRNAs. PUS1-mediated pseudouridylation is critical for maintaining translational fidelity and cellular homeostasis.
Dysfunction of PUS1 is linked to mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA), a rare genetic disorder. Emerging studies suggest PUS1 may also play roles in cancer progression through RNA modification-dependent pathways. Currently, no targeted therapies exist for PUS1-related disorders, but small molecule modulators of pseudouridine synthases are under preclinical investigation.