tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.
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.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).