Gene: CA12

Alternate names for this Gene: CA-XII|CAXII|HsT18816|T18816

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.2

Description of this Gene: carbonic anhydrase 12

Type of Gene: protein-coding

rs72748935 in CA12 gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs1075456 in CA12 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs148438059 in CA12 gene and Isolated hyperchlorhidrosis PMID 26911677 2016 Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

PMID 21035102 2010 Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.

PMID 21184099 2011 Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.