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Functional consequences of the CAPOS mutation E818K of Na,K-ATPase.

J. Biol. Chem.. 2019-01; 
RoennChristian P,LiMelody,SchackVivien R,ForsterIan C,HolmRikke,Toustrup-JensenMads S,AndersenJens P,PetrouSteven,VilsenB
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Gene Synthesis The above described cDNA encoding the ouabain-resistant version of the human wild type α3 and the E818K mutant were used together with the human ATP1B3 cDNA encoding the β3- subunit synthesized by GenScript (Piscataway, NJ). Get A Quote

摘要

The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is caused by the single mutation E818K of the α3-isoform of Na,K-ATPase. Here, using biochemical and electrophysiological approaches, we examined the functional characteristics of E818K, as well as of E818Q and E818A mutants. We found that these amino acid substitutions reduce the apparent Na affinity at the cytoplasmic-facing sites of the pump protein and that this effect is more pronounced for the lysine and glutamine substitutions (3-4-fold) than for the alanine substitution. The electrophysiological measurements indicated a more conspicuous, ∼30-fold reduction of apparent Na affin... More

关键词

ATP1A3,Na+ site,Na+,K+-pump,Na+/K+-ATPase,P-type ATPase,electrophysiology,enzyme mechanism,membrane enzyme,membrane transport,mutant,neurological disease,potassium transport,site-directed mutagenesis,sodium trans