tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene. PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.
See also Pseudouridine kinase Mitochondrial tRNA pseudouridine27/28 synthase TRNA pseudouridine38/39 synthase TRNA pseudouridine32 synthase
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