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A novel human mutation in the SLC9A1 gene results in abolition of na+/H+ exchanger activity
Download2015-01-01
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...
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