Aliases for SLC9A6 Gene
External Ids for SLC9A6 Gene
Previous GeneCards Identifiers for SLC9A6 Gene
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 cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
GeneCards Summary for SLC9A6 Gene
SLC9A6 (Solute Carrier Family 9 Member A6) is a Protein Coding gene. Diseases associated with SLC9A6 include Mental Retardation, X-Linked, Syndromic, Christianson Type and Christianson Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ADP signalling through P2Y purinoceptor 12. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity and sodium:proton antiporter activity. An important paralog of this gene is SLC9A7.
UniProtKB/Swiss-Prot for SLC9A6 Gene
Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.