Sodium/hydrogen exchanger 6 explained

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]

Further reading

• Brett CL, Wei Y, Donowitz M, Rao R . 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 . 11940519 . 10.1152/ajpcell.00420.2001 .
• Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB . 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 . 11707463 . 10.1074/jbc.M110177200 . free .
• Miyazaki E, Sakaguchi M, Wakabayashi S, Shigekawa M, Mihara K . 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 . 11641397 . 10.1074/jbc.M106267200 . free .
• Numata M, Orlowski J . 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 . 11279194 . 10.1074/jbc.M101319200 . free .
• Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N . 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 . 9039502 . 10.1093/dnares/3.5.321 . free .

Notes and References

1. Numata M, Petrecca K, Lake N, Orlowski J . Identification of a mitochondrial Na+/H+ exchanger . The Journal of Biological Chemistry . 273 . 12 . 6951–9 . Mar 1998 . 9507001 . 10.1074/jbc.273.12.6951. free .
2. Brett CL, Wei Y, Donowitz M, Rao R . 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 . 10.1152/ajpcell.00420.2001 . 11940519 .
3. Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA . 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 . 10.1523/JNEUROSCI.2583-12.2013 . 23303939 . 6704919 .
4. Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC . 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 . 2847532 . 10.1091/mbc.E09-09-0767 . 20130086 .
5. Web site: Angelman Syndrome - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). 28 April 2017. 2015.