Aliases: EGBRS, HM3
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Multigenic CNV-Rare single gene variant-Genetic association
ASD Reports: 7
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 11
Evidence score: 2
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Relevance to Autism
A 473 kb deletion harboring the CHRM3 gene was identified in a male patient with autistic disorder who had social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings (Petersen et al., 2012).
Molecular Function
The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue.
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