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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.
Carbonic anhydrase was initially isolated and characterised from red blood cells in 1933, with simultaneous reports by Meldrum and Roughton (at Cambridge University in the United Kingdom) and by Stadie and O’Brien (at the University of Pennsylvania in the United States), [7] [8] both while searching for a "catalytic factor... necessary for rapid transit of the HCO 3-[bicarbonate anion] from ...
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 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.
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.
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.
The reaction catalyzed by CA1 is the same as other carbonic anhydrase family proteins: + (in tissues - high CO 2 concentration) [9]. The CA1-catalyzed reaction has a relatively low reaction affinity (Km) of 4.0 mM for CO 2, [7] [10] turnover number (Kcat) of 2 × 10 5 s −1, and catalytic efficiency (Kcat/Km) of 5 × 10 7 M −1 s −1 comparing to other isozymes of the α-CA family of ...
Carbonic anhydrase 6 is an enzyme that in humans is encoded by the CA6 gene. [ 5 ] [ 6 ] It is also called 'gustin' because of its presence in saliva, and lower-than-normal levels of salivary zinc in individuals with hypogeusia .