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PUS1 - pseudouridine synthase 1
- Synonym(s) : tRNA pseudouridine(38-40) synthase
- Previous symbols and names : pseudouridylate synthase 1
- Type : gene with protein product
- Chromosomal location : 12q24.33
- OMIM: 608109
- HGNC: 15508
- UniProtKB: Q9Y606
- Genatlas: PUS1
- GenCC: PUS1
- Ensembl: ENSG00000177192
- IUPHAR-DB: -
- Reactome: Q9Y606
- LOVD: PUS1
Diseases list
- Disease-causing germline mutation(s) in Mitochondrial myopathy and sideroblastic anemia
ORPHA:2598 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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