Carboanhydrase 4
Das CA4-gen kodiert die Carboanhydrase 4. Das ist ein Zink-Metalloenzym welches für die reversible hydratation von Kohlenstoffdioxyd verantwortlich ist. Mutationen führen zur atosomal dominanten Retinitis pigmentosa 17.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020