Sodium/hydrogen exchanger 6

Sodium/hydrogen exchanger 6 is an integral membrane protein that in humans is encoded by the SLC9A6 gene. It was originally thought to be a mitochondrial-targeted protein, but subsequent studies have localized it to the plasma membrane and recycling endosomes.[5][6][7][8]

SLC9A6
Identifiers
AliasesSLC9A6, MRSA, NHE6, solute carrier family 9 member A6, MRXSCH
External IDsOMIM: 300231; MGI: 2443511; HomoloGene: 55971; GeneCards: SLC9A6; OMA:SLC9A6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_172780
NM_001358861

RefSeq (protein)

NP_001036002
NP_001171122
NP_001317581
NP_006350
NP_001366039

n/a

Location (UCSC)Chr X: 135.97 – 136.05 MbChr X: 55.66 – 55.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Loss of function causes Christianson syndrome.[9]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198689Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060681Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Numata M, Petrecca K, Lake N, Orlowski J (Mar 1998). "Identification of a mitochondrial Na+/H+ exchanger". The Journal of Biological Chemistry. 273 (12): 6951–9. doi:10.1074/jbc.273.12.6951. PMID 9507001.
  6. ^ Brett CL, Wei Y, Donowitz M, Rao R (May 2002). "Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria". American Journal of Physiology. Cell Physiology. 282 (5): C1031–41. doi:10.1152/ajpcell.00420.2001. PMID 11940519.
  7. ^ Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA (Jan 2013). "Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation". The Journal of Neuroscience. 33 (2): 595–610. doi:10.1523/JNEUROSCI.2583-12.2013. PMC 6704919. PMID 23303939.
  8. ^ Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC (Apr 2010). "The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells". Molecular Biology of the Cell. 21 (7): 1293–304. doi:10.1091/mbc.E09-09-0767. PMC 2847532. PMID 20130086.
  9. ^ "Angelman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2015. Retrieved 28 April 2017.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.