Solute Carrier Family 9 (Sodium/hydrogen Exchanger), Member 6 Proteine (SLC9A6)

SLC9A6 encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. Zusätzlich bieten wir Ihnen SLC9A6 Antikörper (37) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
SLC9A6 10479 Q92581
Maus SLC9A6 SLC9A6 236794  
Ratte SLC9A6 SLC9A6 302863  
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Anmelden zum Anzeigen 60 bis 65 Tage
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage

SLC9A6 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human ,

Weitere Proteine zu Solute Carrier Family 9 (Sodium/hydrogen Exchanger), Member 6 (SLC9A6) Interaktionspartnern

Human Solute Carrier Family 9 (Sodium/hydrogen Exchanger), Member 6 (SLC9A6) Interaktionspartner

  1. 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.

  2. 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

  3. Epileptic encephalopathy related to mutations in the SLC9A6 genes.

  4. 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 Proteine)) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells.

  5. This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

  6. find interesting gene expression changes in endosomal NHE6 and NHE9 (zeige SLC9A9 Proteine) in postmortem autism brains.

  7. Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis.

  8. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6

  9. The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (zeige ube3a Proteine) (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.

  10. These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin (zeige Tf Proteine) via pH regulation.

Mouse (Murine) Solute Carrier Family 9 (Sodium/hydrogen Exchanger), Member 6 (SLC9A6) Interaktionspartner

  1. analysis of the heterozygous Slc9a6 KO female mice model of X-linked Christianson syndrome

  2. deletion of (370)Trp-Ser-Thr(372) leads to endoplasmic reticulum retention and loss of NHE6 function

  3. Loss of NHE6 results in overacidification of the endosomal compartment and attenuated TrkB (zeige NTRK2 Proteine) signaling.

  4. NHE6 may play a unique, previously unrecognized, role at glutamatergic synapses that are important for learning and memory

  5. Sodium-hydrogen exchanger 6 depletion leads to abnormal accumulation of GM2 (zeige CYB5D2 Proteine) ganglioside and unesterified cholesterol within late endosomes and lysosomes of neurons in selective brain regions.

  6. 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.

  7. NHE6 is expressed in the inner ear

SLC9A6 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit SLC9A6

  • solute carrier family 9 member A6 (SLC9A6)
  • solute carrier family 9 (sodium/hydrogen exchanger), member 6 (Slc9a6)
  • solute carrier family 9 member A6 (Slc9a6)
  • sodium/hydrogen exchanger 6 (PGTG_07402)
  • solute carrier family 9 member A6 (slc9a6)
  • 3732426M05 Protein
  • 6430520C02Rik Protein
  • DKFZp459O1854 Protein
  • mKIAA0267 Protein
  • MRSA Protein
  • NHE6 Protein
  • RGD1563582 Protein

Bezeichner auf Proteinebene für SLC9A6

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

10479 Homo sapiens
236794 Mus musculus
302863 Rattus norvegicus
422241 Gallus gallus
473799 Pan troglodytes
481060 Canis lupus familiaris
533137 Bos taurus
10536554 Puccinia graminis f. sp. tritici CRL 75-36-700-3
100171878 Pongo abelii
100223682 Taeniopygia guttata
100470354 Ailuropoda melanoleuca
100554712 Anolis carolinensis
100588872 Nomascus leucogenys
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