Exploring human rare disease variants from a multidimensional perspective illuminates receptor – G protein coupling diversity
Theo Redfern-Nichols,
Shannon L O’Brien,
Xianglin Huang
et al.
Abstract:G protein-coupled receptors (GPCRs) are transmembrane proteins capable of detecting signals as diverse as odours, neurotransmitters, and hormones. Upon activation, receptor signalling converges onto four Gα protein subtypes to regulate intracellular responses. Therefore, variation in a single Gα protein gene can potentially impact the function of numerous receptors. In this work, we have performed a multidimensional study of rare disease mutations in Gαs, a prototypical Gα protein. By integrating data from 3D … Show more
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