Recombinant Human Sodium/hydrogen exchanger 6 (SLC9A6), partial

1. membrane trafficking of the ES mutant in SLC9A6was impaired and elicited marked reductions in total dendritic length, area and arborization, and triggered apoptotic cell death PMID: 27590723
2. by sequencing panels of genes in patients with no precise clinical diagnosis, NGS can broaden the clinical variability associated with a known gene. We also argue that SLC9A6 gene mutations in females could be responsible for a monogenic cause of mild learning disability/constitutive speech disorders. PMID: 27256868
3. We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6 PMID: 27142213
4. Epileptic encephalopathy related to mutations in the SLC9A6 genes. PMID: 25818041
5. Data show that co-expression with sodium-hydrogen antiporter NHE6 or treatment with the Na(+)/H(+) ionophore monensin shifted amyloid precursor protein (APP) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells. PMID: 25561733
6. This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. PMID: 25044251
7. find interesting gene expression changes in endosomal NHE6 and NHE9 in postmortem autism brains. PMID: 23508127
8. Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis. PMID: 22931061
9. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6 PMID: 22541666
10. The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (AS) but found on genetic testing not to have AS (AS-like cohort), and 104 male patients with X-linked mental retardation (XMR) (XMR cohort), was investigated. PMID: 21812100
11. These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin via pH regulation. PMID: 21881004
12. In mineralizing osteoblasts, slightly basic basal intracellular pH is maintained, and external acid load is dissipated, by high-capacity Na(+) /H(+) exchange via NHE1 and NHE6. PMID: 21413028
13. This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane. PMID: 21171650
14. NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells PMID: 20130086
15. NHE6 with alanine substitutions in the membrane-proximal region exhibited no apparent change in localization. PMID: 20364249
16. Analysis identified an in-frame 9 base pair deletion in the solute carrier family 9, isoform A6 (SLC9A6 gene), which encodes sodium/hydrogen exchanger-6 localized to endosomal vesicles. PMID: 20395263
17. results suggest that NHE6 is an endosomal Na(+)/H(+) exchanger that may regulate intravesicular pH and volume and contribute to lysosomal biogenesis PMID: 11940519
18. distribution of NHE6 between endosomes and plasma membrane is regulated by RACK1 PMID: 18057008
19. Mutations in SLC9A6 cause X-linked mental retardation;males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations. PMID: 18342287
20. NHE6 participates in regulation of endosomal pH and provides a basis for understanding loss of NHE6 function leading to a phenotype resembling Angelman syndrome. PMID: 19619532

Show More

Hide All

HGNC: 11079

OMIM: 300231

KEGG: hsa:10479

STRING: 9606.ENSP00000359729

UniGene: Hs.62185