mAChR M3: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. Defects in CHRM3 are the cause of Eagle-Barrett syndrome (EGBRS). EGBRS is a syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Receptor, GPCR; GPCR, family 1
Chromosomal Location of Human Ortholog: 1q43
Cellular Component: asymmetric synapse; basolateral plasma membrane; cell junction; dendrite; integral to plasma membrane; nerve terminal; plasma membrane; postsynaptic membrane; synapse
Molecular Function: acetylcholine binding; drug binding; G-protein coupled acetylcholine receptor activity; phosphoinositide phospholipase C activity; protein binding; receptor activity
Biological Process: acetylcholine receptor signaling, muscarinic pathway; cell proliferation; energy reserve metabolic process; G-protein coupled receptor protein signaling pathway; muscarinic acetylcholine receptor, adenylate cyclase inhibiting pathway; muscarinic acetylcholine receptor, phospholipase C activating pathway; nervous system development; positive regulation of smooth muscle contraction; protein modification process; regulation of insulin secretion; regulation of vascular smooth muscle contraction; saliva secretion; signal transduction; smooth muscle contraction; synaptic transmission, cholinergic
Disease: Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism
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