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IMPDH1 - inosine monophosphate dehydrogenase 1
- Synonym(s) : LCA11, sWSS2608
- Previous symbols and names : IMP (inosine 5'-monophosphate) dehydrogenase 1, RP10, retinitis pigmentosa 10 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 7q32.1
- OMIM: 146690
- HGNC: 6052
- UniProtKB: P20839
- Genatlas: IMPDH1
- Ensembl: ENSG00000106348
- IUPHAR-DB: 2624
- Reactome: P20839
- LOVD: IMPDH1
Diseases list
- Disease-causing germline mutation(s) in Leber congenital amaurosis
ORPHA:65 
- Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791
: AssessedGene 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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