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Isolated hyperchlorhidrosis, also known as Carbonic anhydrase XII deficiency, is a rare autosomal recessive genetic condition characterized by a lifelong tendency to lose massive amounts of sodium and chloride through sweat which leads to various symptoms.
For example, carbonic anhydrase produces acid in the stomach lining. In the kidney, the control of bicarbonate ions influences the water content of the cell. The control of bicarbonate ions also influences the water content in the eyes. Inhibitors of carbonic anhydrase are used to treat glaucoma, the excessive build-up of water in the eyes.
Carbonic anhydrase IX (CA9/CA IX) is an enzyme that in humans is encoded by the CA9 gene. [ 5 ] [ 6 ] [ 7 ] It is one of the 14 carbonic anhydrase isoforms found in humans and is a transmembrane dimeric metalloenzyme with an extracellular active site that facilitates acid secretion in the gastrointestinal tract. [ 8 ]
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in various biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.
Carbonic anhydrase II (gene name CA2) is one of sixteen forms of human α carbonic anhydrases. [5] Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule.
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12351 Ensembl ENSG00000167434 ENSMUSG00000000805 UniProt P22748 Q64444 RefSeq (mRNA) NM_000717 NM_007607 RefSeq (protein) NP_000708 NP_031633 Location (UCSC) Chr 17: 60.15 – 60.17 Mb Chr 11: 84.85 – 84.86 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Carbonic anhydrase 4 is an enzyme that in humans is encoded by the CA4 gene. Function Carbonic anhydrases (CAs) are a large ...
Some troops leave the battlefield injured. Others return from war with mental wounds. Yet many of the 2 million Iraq and Afghanistan veterans suffer from a condition the Defense Department refuses to acknowledge: Moral injury.