Protein-coding gene in the species Homo sapiens
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]
Loss of function causes Christianson syndrome .[ 9]
See also
References
^ a b c GRCh38: Ensembl release 89: ENSG00000198689 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060681 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ 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 . ^ 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 . ^ 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 . ^ "Angelman Syndrome - NORD (National Organization for Rare Disorders)" . NORD (National Organization for Rare Disorders) . 2015. Retrieved 28 April 2017 .
Further reading
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 . Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB (Feb 2002). "A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression" . The Journal of Biological Chemistry . 277 (5): 3520– 9. doi :10.1074/jbc.M110177200 PMID 11707463 . Miyazaki E, Sakaguchi M, Wakabayashi S, Shigekawa M, Mihara K (Dec 2001). "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. doi :10.1074/jbc.M106267200 PMID 11641397 . Numata M, Orlowski J (May 2001). "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. doi :10.1074/jbc.M101319200 PMID 11279194 . Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (Oct 1996). "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. 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 .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11): (12): (13): (14): (15): (16): (17): (18): (19): (20):
SLC21–30
(21): (22): (23): (24): (25): (26): (27): (28): (29): (30):
SLC31–40
(31): (32): (33): (34): (35): (36): (37): (38): (39): (40):
SLC41–48
(41): (42): (43): (44): (45): (46): (47): (48):
