Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

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

Related Diseases:

Retinitis pigmentosa 17
CA4

References:

1.

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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2.

Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

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3.

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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4.

Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

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5.

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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6.

Okuyama T et al. (1992) Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes.

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7.

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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8.

Hageman GS et al. (1991) Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.

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9.

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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10.

Brown D et al. (1990) Localization of membrane-associated carbonic anhydrase type IV in kidney epithelial cells.

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11.

Whitney PL et al. (1982) Membrane-associated carbonic anhydrase purified from bovine lung.

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12.

Sender S et al. (1994) Immunohistochemical localization of carbonic anhydrase IV in capillaries of rat and human skeletal muscle.

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13.

Fleming RE et al. (1993) Pulmonary carbonic anhydrase IV: developmental regulation and cell-specific expression in the capillary endothelium.

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14.

Okuyama T et al. (1993) Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q.

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15.

Fleming RE et al. (1995) Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization.

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16.

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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17.

Chandrashekar J et al. (2009) The taste of carbonation.

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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: April 29, 2019