Gene Symbol | CA2 |
Entrez Gene ID | 760 |
Full Name | carbonic anhydrase 2 |
Synonyms | CA-II,CAC,CAII,Car2,HEL-76,HEL-S-282 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) |