CA12
Function
Reversible hydration of carbon dioxide.
Involvement in disease
Hyperchlorhidrosis, isolated
HYCHL
An autosomal recessive 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the alpha-carbonic anhydrase family.
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. Expressed in sweat glands and bronchiolar epithelium (PubMed:26911677).
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Cell membrane
Alternative names
Carbonic anhydrase 12, Carbonate dehydratase XII, Carbonic anhydrase XII, Tumor antigen HOM-RCC-3.1.3, CA-XII, CA12