Also known as MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.
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.[provided by RefSeq, Sep 2009].
via MyGene.info
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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).