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PRPF3 - pre-mRNA processing factor 3
- Synonym(s) : HPRP3, Prp3, SNRNP90
- Previous symbols and names : RP18, prp3 pre-mrna processing factor 3 homolog (s. cerevisiae), prp3 pre-mrna processing factor 3 homolog (yeast), retinitis pigmentosa 18 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 1q21.2
- OMIM: 607301
- HGNC: 17348
- UniProtKB: O43395
- Genatlas: PRPF3
- Ensembl: ENSG00000117360
- IUPHAR-DB: -
- Reactome: O43395
- LOVD: PRPF3
Diseases list
- Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791

Gene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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