ArticlePloS one2015
A novel human mutation in the SLC9A1 gene results in abolition of Na+/H+ exchanger activity.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.NPJ genomic medicine · 2024Article
- The Remaining Conundrum of the Role of the NaReviews in cardiovascular medicine · 2022Review
- Roles of the NaInternational journal of molecular sciences · 2021Article
- Rainbow Trout (International journal of molecular sciences · 2021Article
- Role of Genetic Mutations of the NaMolecular and cellular biochemistry · 2021Review
- Acidic residues of extracellular loop 3 of the NaMolecular and cellular biochemistry · 2020Article
- Amino Acids 563-566 of the NaInternational journal of molecular sciences · 2020Article
- Stop Codon Polymorphisms in the Human SLC9A1 Gene Disrupt or Compromise Na+/H+ Exchanger Function.PloS one · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The SLC9A1 gene, the Na+/H+ exchanger isoform 1 is the principal plasma membrane Na+/H+ exchanger of mammalian cells and functions by exchanging one intracellular proton for one extracellular sodium. The human protein is 815 amino acids in length. Five hundred N-terminal amino acids make up the transport domain of the protein and are believed to form 12 transmembrane segments. Recently, a genetic mutation of the Na+/H+ exchanger isoform 1, N266H, was discovered in a human patient through exome sequencing. We examined the effect of this mutation on expression, targeting and activity of the Na+/H+ exchanger. Mutant N266H protein was expressed in AP-1 cells, which lack their endogenous Na+/H+ exchanger protein. Targeting of the mutant protein to the cell surface was normal and expression levels were only slightly reduced relative to the wild type protein. However, the N266H mutant protein had no detectable Na+/H+ exchanger activity. A histidine residue at this location may disrupt the cation binding site or the pore of the Na+/H+ exchanger protein.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.