Preferred Label : carbonic anhydrase ii;

MeSH definition : A cytosolic carbonic anhydrase isoenzyme found widely distributed in cells of almost all tissues. Deficiencies of carbonic anhydrase II produce a syndrome characterized by OSTEOPETROSIS, renal tubular acidosis (ACIDOSIS, RENAL TUBULAR) and cerebral calcification. EC 4.2.1.-;

MeSH synonym : carbonic anhydrase isoenzyme c; carbonic anhydrase c;

Registry Number MeSH : EC 4.2.1.-;

MeSH annotation : /antag: coord with CARBONIC ANHYDRASE INHIBITORS;

Is substance : O;

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A cytosolic carbonic anhydrase isoenzyme found widely distributed in cells of almost all tissues. Deficiencies of carbonic anhydrase II produce a syndrome characterized by OSTEOPETROSIS, renal tubular acidosis (ACIDOSIS, RENAL TUBULAR) and cerebral calcification. EC 4.2.1.-

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2785
2012
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France
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resource guides
rare diseases
carbonic anhydrase ii
osteopetrosis
osteopetrosis with renal tubular acidosis
acidosis, renal tubular
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14/05/2024


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