UniProt functional annotation for O43570

UniProt code: O43570.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Reversible hydration of carbon dioxide.
 
Catalytic activity: H(2)CO(3) = CO(2) + H(2)O.
Cofactor: Zinc.
Enzyme regulation: Inhibited 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).
Biophysicochemical properties: Kinetic parameters: KM=12.0 mM for CO(2);
Subunit: Homodimer.
Subcellular location: Membrane; Single-pass type I membrane protein.
Tissue specificity: Highly 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.
Disease: Hyperchlorhidrosis, 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity: Belongs to the alpha-carbonic anhydrase family.

Annotations taken from UniProtKB at the EBI.