SLC9A7 solute carrier family 9 member A7 |
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SLC9A7 solute carrier family 9 member A7Gene ID: 84679, updated on
17-Jun-2024Gene type: protein codingAlso known as: NHE7; NHE-7; MRX108; SLC9A6See all available tests in GTR for this geneGo to complete Gene record for SLC9A7Go to Variation Viewer for SLC9A7 variantsSummary This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] Associated conditionsSee all available tests in GTR for this gene DescriptionTestsIntellectual developmental disorder, X-linked 108MedGen: C5193009OMIM: 301024GeneReviews: Not availableSee labsGenomic contextLocation:Xp11.3; Xp11.3Sequence: Chromosome: X; NC_000023.11 (46599251..46759118, complement)Total number of exons:19Go to nucleotideGraphics FASTA GenBank VariationResourceLinks for this geneClinVarVariants reported to ClinVardbVarStudies and variantsSNPVariation Viewer for SLC9A7 variantsGenome viewerExplore NCBI-annotated and select non-NCBI annotated genome assembliesRelated articles in PubMedPubMed-OMIMpublications in PubMed explicitly cited by the gene record in OMIM. PubMed Clinical Queriespublications in PubMed limited specific clinical research.All related articles in PubMedsorted by relevance are shown below. Click to see all (21) citations.The intracellular Na(+)/H(+) exchanger NHE7 effects a Na(+)-coupled, but not K(+)-coupled proton-loading mechanism in endocytosis.Milosavljevic N, Monet M, L茅na I, Brau F, Lacas-Gervais S, Feliciangeli S, Counillon L, Po毛t MMilosavljevic N, et al. Cell Rep, 2014 May 8. PMID 24767989Organellar (Na+, K+)/H+ exchanger NHE7 regulates cell adhesion, invasion and anchorage-independent growth of breast cancer MDA-MB-231 cells.Onishi I, Lin PJ, Numata Y, Austin P, Cipollone J, Roberge M, Roskelley CD, Numata MOnishi I, et al. Oncol Rep, 2012 Feb. PMID 22076128Delineation of cystinuria in Saudi Arabia: A case series.Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel MObaid A, et al. BMC Nephrol, 2017 Feb 6. PMID 28166740A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes.Fukura N, Ohgaki R, Matsushita M, Nakamura N, Mitsui K, Kanazawa HFukura N, et al. J Membr Biol, 2010 Apr. PMID 20364249Identification and biochemical characterization of the SLC9A7 interactome.Kagami T, Chen S, Memar P, Choi M, Foster LJ, Numata MKagami T, et al. Mol Membr Biol, 2008 Aug. PMID 18654930 |
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