Sodium/hydrogen exchanger 6

Sodium/hydrogen exchanger 6 (also known as NHE6 or SLC9A6) is a protein that in humans is encoded by the SLC9A6 gene. It is a member of the solute carrier family of proteins, specifically the sodium/hydrogen exchanger (NHE) family. This protein functions to regulate intracellular pH and cell volume.

Function

The sodium/hydrogen exchanger 6 is an integral membrane protein found in the endosomes of cells. It functions to exchange sodium ions (Na+) for hydrogen ions (H+), effectively regulating the pH within the endosome. This is crucial for the proper functioning of the cell, as imbalances in pH can lead to cellular dysfunction and disease.

Clinical significance

Mutations in the SLC9A6 gene that encodes for NHE6 have been associated with several neurological disorders, including Christianson syndrome, a rare X-linked neurodevelopmental disorder characterized by intellectual disability, non-verbal communication, ataxia, and epilepsy.

See also

• Sodium-hydrogen antiporter
• Solute carrier family

References

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External links

• GeneCards - SLC9A6

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