CA12 : carbonic anhydrase 12
Description
The CA12 gene, located on chromosome 8, encodes for carbonic anhydrase XII, a zinc metalloenzyme playing a crucial role in various physiological processes. It primarily functions in the regulation of pH and CO2 levels, contributing to bicarbonate production. CA12 is expressed in various tissues, including the brain, lungs, kidneys, and red blood cells, highlighting its wide-ranging biological importance.
Associated Diseases
- Glaucoma: Studies suggest a potential link between CA12 gene variations and increased susceptibility to glaucoma, a condition affecting intraocular pressure.
- Cancer: CA12 expression has been observed in certain cancer types, particularly those associated with metabolic alterations. Its role in tumor development and progression is under investigation.
- Metabolic Disorders: As CA12 participates in pH homeostasis, its dysregulation might contribute to metabolic imbalances and diseases involving altered acid-base balance.
Did you know?
CA12 exhibits tissue-specific expression patterns, suggesting diverse roles in different physiological systems.
