SLC9A3R2
SLC9A3R2 Gene: An Intriguing Player in Human Health
Description
The SLC9A3R2 gene encodes a protein called solute carrier family 9, subfamily A, member 3, regulator 2. This protein is an integral part of the sodium/hydrogen exchanger (NHE) family, responsible for maintaining proper pH balance and ion homeostasis in cells.
SLC9A3R2 is particularly active in the gastrointestinal tract, where it plays a crucial role in the absorption and secretion of sodium and bicarbonate ions. It also functions in other tissues, including the kidneys, lungs, and brain, contributing to various physiological processes.
Associated Diseases
Mutations in the SLC9A3R2 gene have been linked to several medical conditions, including:
- Proximal Renal Tubular Acidosis (pRTA): A kidney disorder that results in the inability to reabsorb bicarbonate ions, causing excessive acid excretion in the urine.
- Infantile Diarrhea: A severe form of diarrhea that occurs in infants, characterized by dehydration and electrolyte imbalance.
- Bartter Syndrome: A rare kidney disorder that impairs sodium reabsorption, leading to low potassium levels and excessive urination.
Did you Know ?
Approximately 0.1% of newborns worldwide are affected by pRTA, making it the most common form of genetic acidosis in children.
