CA12

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]CA12 (Carbonic Anhydrase 12) is a Protein Coding gene. Diseases associated with CA12 include Hyperchlorhidrosis, Isolated and Degenerative Disc Disease. Among its related pathways are Nitrogen metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.Reversible hydration of carbon dioxide.

Carbonic Anhydrase 12

Reversible hydration of carbon dioxide.

Bicarbonate transport Source: Reactome
Chloride ion homeostasis Source: UniProtKB
One-carbon metabolic process Source: GO_Central

Cell membrane; Membrane

Hyperchlorhidrosis, isolated (HYCHL): An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat.

Extracellular: 25-301 aa
Helical: 302-322 aa
Cytoplasmic: 323-354 aa