SLC9A8
slc9a8 Gene: Unraveling its Significance
Description
The slc9a8 gene, also known as the solute carrier family 9, member A8, plays a crucial role in the transport of organic anions across cell membranes. It encodes a transmembrane protein that belongs to the sodium/hydrogen exchanger (NHE) family. SLC9A8 is expressed in various tissues, including the brain, kidneys, and liver. It is responsible for maintaining cellular pH balance, regulating cell volume, and transporting organic compounds.
Associated Diseases
Mutations or abnormalities in the slc9a8 gene have been linked to several diseases and conditions:
- Developmental and epileptic encephalopathy 29: This rare genetic disorder is characterized by severe intellectual disability, epilepsy, and impaired motor function.
- Renal tubular acidosis with extrarenal salt wasting: This condition affects the kidneys' ability to regulate the body's acid-base balance and electrolyte homeostasis.
- Hyperuricemia and gout: Elevated levels of uric acid in the blood can lead to gout, a painful inflammatory condition affecting the joints.
- Neurodevelopmental disorders: SLC9A8 dysregulation has been implicated in autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).
Did you Know ?
One in 50,000 individuals worldwide is estimated to be affected by developmental and epileptic encephalopathy 29, caused by mutations in the slc9a8 gene.
