SLCO4C1
The SLC4C1 Gene: Unraveling Its Role in Human Health
Description
The SLC4C1 gene, also known as the solute carrier family 4 member 1 gene, encodes a protein called anion exchanger 1 (AE1). AE1 is a transmembrane protein that facilitates the exchange of bicarbonate ions (HCO3-) across cell membranes. It plays a crucial role in maintaining the pH balance and ion concentration within cells.
Associated Diseases
Variants in the SLC4C1 gene have been associated with several diseases, including:
- Proximal renal tubular acidosis (pRTA): A condition in which the kidneys are unable to properly acidify urine, leading to an accumulation of acid in the blood and excessive bicarbonate loss in the urine.
- Distal renal tubular acidosis (dRTA): A more severe form of pRTA that affects the distal tubules of the kidney, leading to impaired hydrogen ion secretion and urinary acidification.
- Osteoporosis: A condition characterized by weakened and brittle bones, which may be linked to the role of AE1 in bone mineralization.
- Cardiovascular disease: Some studies have suggested an association between SLC4C1 variants and an increased risk of cardiovascular events.
Did you Know ?
- Variants in the SLC4C1 gene are estimated to affect approximately 1 in 25,000 individuals.
