Background information
G protein-coupled receptors (GPRs or GPCRs), also known as seven transmembrane receptors, heptahelical receptors, or 7TM receptors, are members of the largest protein family and play a role in many different stimulus-response pathways. G-protein coupled receptors mediate extracellular signals into intracellular signals (G-protein activation). They respond to a great variety of signaling molecules, including hormones, neurotransmitters and other proteins and peptides. GPR proteins are integral seven-pass membrane proteins with some conserved amino acid regions. G-protein coupled receptor 56 (GPR56), also designated TM7XN1 protein, contains one GPS domain. GPR56 plays an important role in cell-cell interactions and is widely expressed, with highest levels detected in brain, heart and thyroid gland. Defects in the gene encoding for GPR56 can cause bilateral frontoparietal polymicrogyria (BFPP) which is characterized by disorganized cortical lamination.
