Exchanger NHE6 Research Articles

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

Endocytosis pathways in endothelium: how many?

vascular endothelium is a cellular monolayer with the organization of a simple squamous epithelium that lines the entire cardiovascular system and constitutes a regulatable barrier between blood and tissues ([9][1], [17][2]). By its location, it is easily accessible to blood-borne drugs or imaging

Ligand-dependent complex formation between the Angiotensin II receptor subtype AT2 and Na +/H + exchanger NHE6 in mammalian cells

Involvement of Angiotensin II (Ang II) in the regulation of sodium levels by modulating the Na +/H + exchangers is demonstrated in many tissues. Screening of a mouse 17-day fetus cDNA library with the Angiotensin II receptor AT2 as the bait in yeast two-hybrid assay led us to identify an AT2-interacting mouse fetus peptide that shared 98% amino acid identity with the corresponding region of the human NHE6. NCBI Blast search showed that the clone 6430520C02 (GenBank™ Accession # AK032326) of the mouse genome project carried the complete sequence of this new mouse NHE6 isoform. The human and mouse NHE6 peptides share 97% overall homology. Further analysis showed that the region spanning the third intracellular loop and C-terminal cytoplasmic tail of the AT2 directly interacted with a 182 amino acid region that spans the predicted 5th intracellular loop and the initial part of the C-terminus of the mouse NHE6 in yeast two-hybrid assay. This 182-amino acid region that interacted with the AT2 also shares 98% homology with the corresponding region of rat NHE6 and therefore is highly conserved across species. We detected widespread expression of this NHE6 isoform in several rat tissues including 10-day fetus, 17-day fetus, and 30-day post-natal tissues of heart, brain, kidney and muscle. Moreover, the AT2 co-immunoiprecipitated with a hemagglutinin tagged NHE6 when expressed in human cell line MCF-7, and activated by AngII. This ligand-dependent complex formation between the AT2 and NHE6 suggests that the hormone Ang II may act as a regulator of NHE6, and Ang II-mediated direct protein–protein interaction between AT2 and NHE6 could be a mechanism for modulating the functions of the ubiquitously expressed NHE6 in different tissues.

Brain CO2 buffering capacity in respiratory acidosis and alkalosis.

ArticleBrain CO2 buffering capacity in respiratory acidosis and alkalosis.H Kazemi, D C Shannon, and E Carvallo-GilH Kazemi, D C Shannon, and E Carvallo-GilPublished Online:01 Feb 1967https://doi.org/10.1152/jappl.1967.22.2.241MoreSectionsPDF (1 MB)Download PDF ToolsExport citationAdd to favoritesGet permissionsTrack citations ShareShare onFacebookTwitterLinkedInEmailWeChat Previous Back to Top Next Download PDF FiguresReferencesRelatedInformationCited ByTransport of ions across the choroid plexus epitheliumAcid–base balance and cerebrovascular regulation26 November 2021 | The Journal of Physiology, Vol. 599, No. 24Acid/Base Transporters in CSF Secretion and pH Regulation18 April 2020The choroid plexus sodium-bicarbonate cotransporter NBCe2 regulates mouse cerebrospinal fluid pH12 August 2018 | The Journal of Physiology, Vol. 596, No. 19The murine choroid plexus epithelium expresses the 2Cl−/H+ exchanger ClC-7 and Na+/H+ exchanger NHE6 in the luminal membrane domainHelle H. 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