Gene Symbol | CA12 |
Entrez Gene ID | 771 |
Full Name | carbonic anhydrase 12 |
Synonyms | CA-XII,CAXII,HsT18816,T18816 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Hyperchlorhidrosis, isolated, 143860 (3) |