Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CA4 gene encodes carbonic anhydrases 4 which belongs to the family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. Mutations cause autosomal dominant retinitis pigmentosa 17.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 
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| 2. |
Chandrashekar J et al. (2009) The taste of carbonation.
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| 3. |
Shah GN et al. (2005) Carbonic anhydrase IV and XIV knockout mice: roles of the respective carbonic anhydrases in buffering the extracellular space in brain.
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| 4. |
Fleming RE et al. (1995) Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization.
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| 5. |
Okuyama T et al. (1993) Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q.
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| 6. |
Fleming RE et al. (1993) Pulmonary carbonic anhydrase IV: developmental regulation and cell-specific expression in the capillary endothelium.
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| 7. |
Sender S et al. (1994) Immunohistochemical localization of carbonic anhydrase IV in capillaries of rat and human skeletal muscle.
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| 8. |
Whitney PL et al. (1982) Membrane-associated carbonic anhydrase purified from bovine lung.
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| 9. |
Brown D et al. (1990) Localization of membrane-associated carbonic anhydrase type IV in kidney epithelial cells.
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| 10. |
Zhu XL et al. (1990) Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney.
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| 11. |
Hageman GS et al. (1991) Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.
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| 12. |
Ghandour MS et al. (1992) Carbonic anhydrase IV on brain capillary endothelial cells: a marker associated with the blood-brain barrier.
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| 13. |
Okuyama T et al. (1992) Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes.
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| 14. |
Bardien S et al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
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| 15. |
Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
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| 16. |
Alvarez BV et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
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| 17. |
Rebello G et al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
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| 18. |
Orphanet article Orphanet ID 119122
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| 19. |
NCBI article NCBI 762
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| 20. |
OMIM.ORG article Omim 114760
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| 21. |
Wikipedia article Wikipedia EN (Carbonic_anhydrase_4)
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