Dataset Information
GPCR Cubic Ternary Complex with G protein Cycle, Redfern-Nichols 2023
Ontology highlight
ABSTRACT:
SUBMITTER: Theo Redfern-Nichols
PROVIDER: MODEL2306220001 | biostudies-other |
SECONDARY ACCESSION(S): 40392940
REPOSITORIES: biostudies-other
Publications
Loss-of-function Gα<sub>s</sub> rare disease variants exert mutation-specific effects on GPCR signaling.
Science signaling 20250520 887
G protein-coupled receptors (GPCRs) are transmembrane detectors of extracellular signals that activate heterotrimeric G proteins to regulate intracellular responses. Because there are only 16 Gα proteins that can couple to GPCRs, variation in a single Gα can affect the function of numerous receptors. Here, we investigated two mutant forms of Gα<sub>s</sub> (L388R and E392K) that are associated with pseudohypoparathyroidism type Ic (PHPIc), a maternally inherited rare disease. Gα<sub>s</sub> is e ...[more]
