SLC9A6

The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger (NHE) that is found in the membranes of intracellular organelles such as mitochondria and endosomes. NHEs participate in a wide array of essential cellular processes, including control of intracellular pH, maintenance of cellular volume, and reabsorption of sodium across renal, intestinal, and other epithelia.[supplied by OMIM

Full Name

solute carrier family 9 (sodium/hydrogen exchanger), member 6

Function

Electroneutral exchange of protons for Na+ and K+ across the early and recycling endosome membranes. Contributes to calcium homeostasis.

Biological Process

Biological Process axon extensionManual Assertion Based On ExperimentIDA:MGI
Biological Process dendrite extensionManual Assertion Based On ExperimentIDA:MGI
Biological Process ion transportTAS:Reactome
Biological Process neuron projection morphogenesisManual Assertion Based On ExperimentIDA:MGI
Biological Process potassium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of intracellular pHManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process sodium ion import across plasma membraneManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Endosome membrane
Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.
Isoform 2
Recycling endosome membrane

Involvement in disease

Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH):
A syndrome characterized by profound intellectual disability, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome.

PTM

Ubiquitinated (in vitro).