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CA4 - carbonic anhydrase 4
- Synonym(s) : CAIV, Car4
- Previous symbols and names : RP17, carbonic anhydrase IV, retinitis pigmentosa 17 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 17q23.1
- OMIM: 114760
- HGNC: 1375
- UniProtKB: P22748
- Genatlas: CA4
- Ensembl: ENSG00000167434
- IUPHAR-DB: 2599
- Reactome: P22748
- LOVD: CA4
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
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