Biology:SLC9A6

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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.[1][2][3][4]

Loss of function causes Christianson syndrome.[5]

See also

References

  1. "Identification of a mitochondrial Na+/H+ exchanger". The Journal of Biological Chemistry 273 (12): 6951–9. Mar 1998. doi:10.1074/jbc.273.12.6951. PMID 9507001. 
  2. "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. May 2002. doi:10.1152/ajpcell.00420.2001. PMID 11940519. 
  3. "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. Jan 2013. doi:10.1523/JNEUROSCI.2583-12.2013. PMID 23303939. 
  4. "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. Apr 2010. doi:10.1091/mbc.E09-09-0767. PMID 20130086. 
  5. "Angelman Syndrome - NORD (National Organization for Rare Disorders)". 2015. https://rarediseases.org/rare-diseases/angelman-syndrome/. Retrieved 28 April 2017. 

Further reading

  • "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. May 2002. doi:10.1152/ajpcell.00420.2001. PMID 11940519. 
  • "A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression". The Journal of Biological Chemistry 277 (5): 3520–9. Feb 2002. doi:10.1074/jbc.M110177200. PMID 11707463. 
  • "NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell". The Journal of Biological Chemistry 276 (52): 49221–7. Dec 2001. doi:10.1074/jbc.M106267200. PMID 11641397. 
  • "Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network". The Journal of Biological Chemistry 276 (20): 17387–94. May 2001. doi:10.1074/jbc.M101319200. PMID 11279194. 
  • "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Research 3 (5): 321–9, 341–54. Oct 1996. doi:10.1093/dnares/3.5.321. PMID 9039502. 

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