Protein name: NHE6 Aliases: N/D Substrates: Na+, K+, H+ Transport type: Exchanger / Na+ (K+), H+ Tissue and cellular expression: Brain Subcellular expression: N/D Disease: X-linked mental retardation (Angelman syndrome, Christianson subtype), epilepsy, ataxia Locus: Xq26.3 Sequence ID: NP_001036002.1, NM_001042537.1 NP_006350.1, NM_006359.2 Gene ID: 10479 Splice variants: N/D

SL9A6_HUMAN (UniProt)

Gene names: SLC9A6, KIAA0267, NHE6
Protein names and data: SL9A6_HUMAN, Full=Sodium/hydrogen exchanger 6, Full=Na(+)/H(+) exchanger 6;Short=NHE-6;Full=Solute carrier family 9 member 6; Length: 669 a.a., Mass: 74162 Da,
fasta formatted sequence

Function: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis
Cellular location: Endosome membrane; Multi-pass membrane protein. Note=Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane
Tissue specificity: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart

Database cross-references

UniProt: Q92581
NextBio: 39752
OMIM: 300231 300243
Ensembl: ENST00000370698
GeneCard: GC0XP135985
PharmGenUCSF: SLC9A6
Guide to Pharmacology: SLC9A6 (953)
SLC9 family of sodium/hydrogen exchangers (953)

HGNC: HGNC:11079

Genetic variants

See also Ensembl:ENST00000370698