SLC26A9
The SLC26A9 Gene: Unraveling Its Role in Health and Disease
Description
The SLC26A9 gene, located on chromosome 7, encodes a protein known as solute carrier family 26, member 9 (SLC26A9). This protein is a transmembrane anion exchanger that plays a crucial role in maintaining proper fluid balance and pH levels in various tissues throughout the body.
Associated Diseases
Mutations in the SLC26A9 gene have been linked to several diseases, including:
- Congenital Chloride Diarrhea (CCD): A rare inherited disorder characterized by severe watery diarrhea from birth. CCD is caused by mutations that prevent SLC26A9 from properly transporting chloride ions in the intestines.
- Dent‘s Disease: A genetic condition characterized by excessive calcium loss in the urine (hypercalciuria) and accumulation of uric acid in the blood (hyperuricemia). Mutations in SLC26A9 lead to impaired reabsorption of chloride and sodium in the kidneys.
- Kidney Stones: Some studies have suggested an association between SLC26A9 polymorphisms and an increased risk of developing kidney stones.
- Hearing Loss: Mutations in SLC26A9 have been linked to certain types of hearing loss, particularly in children.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by Congenital Chloride Diarrhea (CCD), making it a relatively rare disorder.
