Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes

The objective of this project is the understanding of the pathophysiological mechanism underlying Angelman-like syndrome very recently found to be caused by mutation of the gene SLC9A6 encoding the putative endosomal Na+/H+ antiporter NHE6. This is of broad interest considering that NHE6 is also responsible for Christianson syndrome, another X-linked mental disorder with an overlapping phenotype with Angelman syndrome and that also other mental disorders might have a common underlying molecular origin. The specific aim is to characterize at the molecular level the transport properties of NHE6, a protein whose functional features are still obscure.