Nurgul Carkaci-Salli, Ugur Salli, Izel Tekin, Jeremy A. Hengst, Moe K. Zhao, T. Lee Gilman, Anne M. Andrews and Kent E. Vrana Functional characterization of the S41Y (C2755A) polymorphism of tryptophan hydroxylase 2 Journal of Neurochemistry 130
We report the functional implications of a polymorphic human tryptophan hydroxylase-2 gene associated with depression and bipolar disorder. The polymorphic enzyme (serine-41 converted to tyrosine) has increased activity, but decreased enzyme stability and serotonin production. Moreover, cyclic AMP-dependent protein kinase (PKA)-mediated phosphorylation of the mutant enzyme is decreased suggesting modified regulation of the S41Y variant leading to altered serotonin.
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