GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: CA11

id770
symbolCA11
organismHomo sapiens
full namecarbonic 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


Partner site chrome whole page screenshot on site-shot.com.