From Wikipedia, the free encyclopedia
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):