IndraLab
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"XREF_BIBR The other three variants (G54R, P56S, and T262P), while considered functionally insignificant in the modification of SCN5A channel biology and now classified as a functional insignificant variant, may have helped nevertheless to elucidate which functional domains of SNTA1 are most important in maintaining integrity and proper function of the SCN5A, nNOS, SNTA1, and PMCA4b complex."
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"In conclusion, this study implicates SNTA1 as a novel SIDS-susceptibility gene, whereby mutant SNTA1 disturbs the nNOS, SNTA1, PMCA4b, and SCN5A complex, releasing inhibition of associated nNOS by PMCA4b and resulting in increased peak and late I Na via the up-regulated endogenous NO."