We discovered 154 SNPs from five independent regions associated with FGF23 concentration. A locus strongly associated with variations in FGF23 concentration is rs11741640 within RGS14 and upstream of SLC34A1 (a gene involved in renal phosphate transport).
The findings of this study suggested new pre- and postsynaptic regulatory functions of RGS14 and RGS14 variants specific to the primate brain and provide evidence for unconventional roles of RGS14 in the nuclei of striatal neuron.
Data support the notion that the Galpha but not Gbetagamma arm of the Gi/o signalling is involved in TRPC4 activation and unveil new roles for RGS and RGS14 in fine-tuning TRPC4 activities.
The RBD region associates with the RGS domain region producing an intramolecular interaction within RGS14 that enhances the GTPase activating function.
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