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SLC9A6 encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. Additionally we are shipping SLC9A6 Antibodies (28) and many more products for this protein.
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deletion of (370)Trp-Ser-Thr(372) leads to endoplasmic reticulum retention and loss of NHE6 function
Loss of NHE6 results in overacidification of the endosomal compartment and attenuated TrkB (show NTRK2 Proteins) signaling.
NHE6 may play a unique, previously unrecognized, role at glutamatergic synapses that are important for learning and memory
Sodium-hydrogen exchanger 6 depletion leads to abnormal accumulation of GM2 (show CYB5D2 Proteins) ganglioside and unesterified cholesterol within late endosomes and lysosomes of neurons in selective brain regions.
This review describes Nhe6 knockout mice, which partially mimic phenotypical features of patients suffering from mental disorders including motor hyperactivity and a lowered threshold for pharmacologically induced seizures.
NHE6 is expressed in the inner ear
Epileptic encephalopathy related to mutations in the SLC9A6 genes.
Data show that co-expression with sodium-hydrogen antiporter NHE6 or treatment with the Na(+)/H(+) ionophore monensin shifted amyloid precursor protein (APP (show APP Proteins)) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells.
This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
find interesting gene expression changes in endosomal NHE6 and NHE9 (show SLC9A9 Proteins) in postmortem autism brains.
Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis.
We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6
The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (show ube3a Proteins) (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.
These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin (show Tf Proteins) via pH regulation.
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.
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.
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.
solute carrier family 9 (sodium/hydrogen exchanger)
, solute carrier family 9 (sodium/hydrogen exchanger), member 7
, sodium/hydrogen exchanger 7-like
, sodium/hydrogen exchanger 6
, solute carrier family 9 (sodium/hydrogen exchanger), member 6
, sodium/hydrogen exchanger 6-like
, Na(+)/H(+) exchanger 6