SLC9A5
Description
The SLC9A5 (solute carrier family 9 member A5) is a protein-coding gene located on chromosome 16.
Sodium/hydrogen exchanger 5 is a protein that in humans is encoded by the SLC9A5 gene.
Sodium/hydrogen exchanger 5 (SLC9A5) is a plasma membrane protein that mediates the electroneutral exchange of intracellular H+ ions for extracellular Na+ ions in a 1:1 stoichiometry. This exchange regulates intracellular pH homeostasis, particularly in neural tissues. SLC9A5 acts as a negative regulator of dendritic spine growth, playing a role in postsynaptic remodeling and signaling. It can also contribute to organellar pH regulation, affecting receptor tyrosine kinase trafficking.
SLC9A5 is also known as NHE5.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to adenylate kinase deficiency
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- Heinz body anemia