Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Retinitis pigmentosa 17
CA4

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 external link
19.

NCBI article

NCBI 762 external link
20.

OMIM.ORG article

Omim 114760 external link
Update: 14. August 2020
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