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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PUS1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID80324
Official gene symbolPUS1
Full namepseudouridylate synthase 1
Aliases,MGC11268,
Gene summaryThis 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.
LocationChromosome: 12   Locus: 12q24.33
Gene position132413745 - 132428406  Map Viewer
Gene orientationplus
Gene size14662 bp
Gene sequence
OMIM ID608109