gene: CA11
id | 770 |
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symbol | CA11 |
organism | Homo sapiens |
full name | carbonic anhydrase 11 |
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. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] |
variant-disease |
GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3 AND See cases GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 AND not provided GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 AND See cases GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 AND not provided GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 AND See cases ... 5 more |
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