CA12

Carbonic anhydrase 12 is an is_associated_with::enzyme that in humans is encoded by the CA12 is_associated_with::gene.

Function
is_associated_with::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, is_associated_with::calcification, acid-base balance, is_associated_with::bone resorption, and the formation of aqueous humor, is_associated_with::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. Two transcript variants encoding different isoforms have been identified for this gene.

Pathology
Mutations in the gene encoding CA12 have been shown to be associated with an autosomal recessive form of is_associated_with::hyponatremia due to salt wasting in sweat.