Immunoprecipitation of PUS1 transfected lysate using anti-PUS1 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with PUS1 MaxPab rabbit polyclonal antibody (D01) (H00080324-D01).
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants