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SLC9A6 encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. Zusätzlich bieten wir Ihnen SLC9A6 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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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.
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
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 (zeige APP Antikörper)) 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 (zeige SLC9A9 Antikörper) 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 (zeige ube3a Antikörper) (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 (zeige Tf Antikörper) via pH regulation.
analysis of the heterozygous Slc9a6 KO female mice model of X-linked Christianson syndrome
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 (zeige NTRK2 Antikörper) 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 (zeige CYB5D2 Antikörper) 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
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.
Na(+)/H(+) exchanger 6
, sodium/hydrogen exchanger 6
, solute carrier family 9 (sodium/hydrogen exchanger), member 6
, solute carrier family 9 (sodium/hydrogen exchanger)
, sodium/hydrogen exchanger 6-like