释义 |
- See also
- References
- Further reading
{{short description|Protein-coding gene in the species Homo sapiens}}{{Infobox_gene}}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 - {{MeshName|SLC9A6+protein,+human}}
References 1. ^{{cite journal | vauthors = Numata M, Petrecca K, Lake N, Orlowski J | title = Identification of a mitochondrial Na+/H+ exchanger | journal = The Journal of Biological Chemistry | volume = 273 | issue = 12 | pages = 6951–9 | date = Mar 1998 | pmid = 9507001 | pmc = | doi = 10.1074/jbc.273.12.6951}} 2. ^{{cite journal | vauthors = Brett CL, Wei Y, Donowitz M, Rao R | title = Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria | journal = American Journal of Physiology. Cell Physiology | volume = 282 | issue = 5 | pages = C1031–41 | date = May 2002 | doi = 10.1152/ajpcell.00420.2001 | pmid = 11940519 }} 3. ^{{cite journal | vauthors = Deane EC, Ilie AE, Sizdahkhani S, Das Gupta M, Orlowski J, McKinney RA | title = Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation | journal = The Journal of Neuroscience | volume = 33 | issue = 2 | pages = 595–610 | date = Jan 2013 | doi = 10.1523/JNEUROSCI.2583-12.2013 | pmid = 23303939 }} 4. ^{{cite journal | vauthors = Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC | title = The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells | journal = Molecular Biology of the Cell | volume = 21 | issue = 7 | pages = 1293–304 | date = Apr 2010 | pmc = 2847532 | doi = 10.1091/mbc.E09-09-0767 | pmid = 20130086 }} 5. ^{{cite web|title=Angelman Syndrome - NORD (National Organization for Rare Disorders)|url=https://rarediseases.org/rare-diseases/angelman-syndrome/|website=NORD (National Organization for Rare Disorders)|accessdate=28 April 2017|date=2015}}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Brett CL, Wei Y, Donowitz M, Rao R | title = Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria | journal = American Journal of Physiology. Cell Physiology | volume = 282 | issue = 5 | pages = C1031–41 | date = May 2002 | pmid = 11940519 | doi = 10.1152/ajpcell.00420.2001 }}
- {{cite journal | vauthors = Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB | title = A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression | journal = The Journal of Biological Chemistry | volume = 277 | issue = 5 | pages = 3520–9 | date = Feb 2002 | pmid = 11707463 | doi = 10.1074/jbc.M110177200 }}
- {{cite journal | vauthors = Miyazaki E, Sakaguchi M, Wakabayashi S, Shigekawa M, Mihara K | title = NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell | journal = The Journal of Biological Chemistry | volume = 276 | issue = 52 | pages = 49221–7 | date = Dec 2001 | pmid = 11641397 | doi = 10.1074/jbc.M106267200 }}
- {{cite journal | vauthors = Numata M, Orlowski J | title = Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network | journal = The Journal of Biological Chemistry | volume = 276 | issue = 20 | pages = 17387–94 | date = May 2001 | pmid = 11279194 | doi = 10.1074/jbc.M101319200 }}
- {{cite journal | vauthors = Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N | title = 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 | journal = DNA Research | volume = 3 | issue = 5 | pages = 321–9, 341–54 | date = Oct 1996 | pmid = 9039502 | doi = 10.1093/dnares/3.5.321 }}
{{refend}}{{NLM content}}{{Membrane transport proteins}}{{membrane-protein-stub}} 1 : Solute carrier family |