CA12

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This article is about the enzyme. For other uses, see CA-12.
Carbonic anhydrase XII
Protein CA12 PDB 1jcz.png
PDB rendering based on 1jcz.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CA12 ; CAXII; HsT18816
External IDs OMIM603263 MGI1923709 HomoloGene20327 ChEMBL: 3242 GeneCards: CA12 Gene
EC number 4.2.1.1
RNA expression pattern
PBB GE CA12 203963 at tn.png
PBB GE CA12 204508 s at tn.png
PBB GE CA12 204509 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 771 76459
Ensembl ENSG00000074410 ENSMUSG00000032373
UniProt O43570 Q8CI85
RefSeq (mRNA) NM_001218 NM_178396
RefSeq (protein) NP_001209 NP_848483
Location (UCSC) Chr 15:
63.61 – 63.67 Mb
Chr 9:
66.71 – 66.77 Mb
PubMed search [1] [2]

Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.[1][2]

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. Two transcript variants encoding different isoforms have been identified for this gene.[2]

Pathology[edit]

Mutations in the gene encoding CA12 have been shown to be associated with an autosomal recessive form of hyponatremia due to salt wasting in sweat.[3]

References[edit]

  1. ^ Tureci O, Sahin U, Vollmar E, Siemer S, Gottert E, Seitz G, Parkkila AK, Shah GN, Grubb JH, Pfreundschuh M, Sly WS (Aug 1998). "Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers". Proc Natl Acad Sci U S A 95 (13): 7608–7613. doi:10.1073/pnas.95.13.7608. PMC 22698. PMID 9636197. 
  2. ^ a b "Entrez Gene: CA12 carbonic anhydrase XII". 
  3. ^ Muhammad, E.; Leventhal, N.; Parvari, G.; Hanukoglu, A.; Hanukoglu, I.; Chalifa-Caspi, V.; Feinstein, Y.; Weinbrand, J. et al. (Apr 2011). "Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.". Hum Genet 129 (4): 397–405. doi:10.1007/s00439-010-0930-4. PMID 21184099. 

Further reading[edit]