Carbonic anhydrase 4
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.
Genetests:
Related Diseases:
References:
1. |
Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
|
2. |
Chandrashekar J et al. (2009) The taste of carbonation.
|
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.
|
4. |
Fleming RE et al. (1995) Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization.
|
5. |
Okuyama T et al. (1993) Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q.
|
6. |
Fleming RE et al. (1993) Pulmonary carbonic anhydrase IV: developmental regulation and cell-specific expression in the capillary endothelium.
|
7. |
Sender S et al. (1994) Immunohistochemical localization of carbonic anhydrase IV in capillaries of rat and human skeletal muscle.
|
8. |
Whitney PL et al. (1982) Membrane-associated carbonic anhydrase purified from bovine lung.
|
9. |
Brown D et al. (1990) Localization of membrane-associated carbonic anhydrase type IV in kidney epithelial cells.
|
10. |
Zhu XL et al. (1990) Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney.
|
11. |
Hageman GS et al. (1991) Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.
|
12. |
Ghandour MS et al. (1992) Carbonic anhydrase IV on brain capillary endothelial cells: a marker associated with the blood-brain barrier.
|
13. |
Okuyama T et al. (1992) Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes.
|
14. |
Bardien S et al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
|
15. |
Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
|
16. |
Alvarez BV et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
|
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.
|
18. |
Orphanet article
Orphanet ID 119122
|
19. |
NCBI article
NCBI 762
|
20. |
OMIM.ORG article
Omim 114760
|
21. |
Wikipedia article
Wikipedia EN (Carbonic_anhydrase_4)
|
Update: Aug. 14, 2020