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.-;
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 true France French resource guides rare diseases carbonic anhydrase ii osteopetrosis osteopetrosis with renal tubular acidosis acidosis, renal tubular intellectual disability scientific and technical information