The Emerging Role of Gβ Subunits in Human Genetic Diseases
Division of Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo (FG), Italy
Center for Integrative Genomics, University of Lausanne, CH-1015 Lausanne, Switzerland
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Cells 2019, 8(12), 1567; https://doi.org/10.3390/cells8121567
Received: 23 October 2019 / Revised: 23 November 2019 / Accepted: 29 November 2019 / Published: 4 December 2019
Environmental stimuli are perceived and transduced inside the cell through the activation of signaling pathways. One common type of cell signaling transduction network is initiated by G-proteins. G-proteins are activated by G-protein-coupled receptors (GPCRs) and transmit signals from hormones, neurotransmitters, and other signaling factors, thus controlling a number of biological processes that include synaptic transmission, visual photoreception, hormone and growth factors release, regulation of cell contraction and migration, as well as cell growth and differentiation. G-proteins mainly act as heterotrimeric complexes, composed of alpha, beta, and gamma subunits. In the last few years, whole exome sequencing and biochemical studies have shown causality of disease-causing variants in genes encoding G-proteins and human genetic diseases. This review focuses on the G-protein β subunits and their emerging role in the etiology of genetically inherited rare diseases in humans.