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CA2 carbonic anhydrase 2

Gene ID: 760, updated on 5-Aug-2018
Also known as: CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282


The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Associated conditions

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Osteopetrosis with renal tubular acidosis
MedGen: C0345407OMIM: 259730GeneReviews: Not available
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Genomic context

Chromosome: 8; NC_000008.11 (85463902..85481492)
Total number of exons:


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