Entrez gene ID | | 80324 |
Official gene symbol | | PUS1 |
Full name | | pseudouridylate synthase 1 |
Aliases | | ,MGC11268, |
Gene summary | | 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. |
Location | | Chromosome: 12 Locus: 12q24.33 |
Gene position | | 132413745 - 132428406 Map Viewer |
Gene orientation | | plus |
Gene size | | 14662 bp |
Gene sequence |
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OMIM ID | | 608109 |