CHRM1 Chromosome 11
Cholinergic receptor muscarinic 1
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What This Gene Does
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 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cholinergic receptors muscarinic
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000168539
Associated Conditions (2)
See cases
CHRM1-related neurodevelopmental disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135039016 | Health Risk | Likely pathogenic | See cases, CHRM1-related neurodevelopmental disorder, See cases |