Anti-NHE-6

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010], Protein function: Endosomal Na(+), K(+)/H(+) antiporter (PubMed:15522866, PubMed:31676550, PubMed:32277048, PubMed:28635961). Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+). By facilitating proton efflux, SLC9A6 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Responsible for alkalizing and maintaining the endosomal pH, and consequently in, e.g., endosome maturation and trafficking of recycling endosomal cargo (PubMed:15522866, PubMed:31676550, PubMed:32277048, PubMed:28635961). Plays a critical role during neurodevelopment by regulating synaptic development and plasticity. Implicated in the maintenance of cell polarity in a manner that is dependent on its ability to modulate intravesicular pH (PubMed:20130086). Regulates intracelular pH in some specialized cells, osteoclasts and stereocilia where this transporter localizes to the plasma membrane. [The UniProt Consortium] Recommended dilutions: Western Blot: 1/500 - 1/2000. ELISA: 1/40000. Not yet tested in other applications.. Cellular localization: Endosome membrane , Multi-pass membrane protein . Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane., [Isoform 2]: Recycling endosome membrane , Multi-pass membrane protein .