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MGP000378

UniProt Annotations

Entry Information
Gene Namecarbonic anhydrase XII
Protein EntryCAH12_HUMAN
UniProt IDO43570
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43570-1; Sequence=Displayed; Name=2; IsoId=O43570-2; Sequence=VSP_000772;
Biophysicochemical PropertiesKinetic parameters: KM=12.0 mM for CO(2) {ECO:0000269|PubMed:18618712};
Catalytic ActivityH(2)CO(3) = CO(2) + H(2)O.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105;
DiseaseHyperchlorhidrosis, isolated (HCHLH) [MIM:143860]: A 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. {ECO:0000269|PubMed:21035102}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4- carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2- aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt). {ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17407288, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:18618712, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230}.
FunctionReversible hydration of carbon dioxide.
SimilarityBelongs to the alpha-carbonic anhydrase family. {ECO:0000305}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitHomodimer. {ECO:0000269|PubMed:11493685}.
Tissue SpecificityHighly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis.
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