CHRM3 Chromosome 1
Cholinergic receptor muscarinic 3
Upload your DNA to see your personal genotypes for variants in CHRM3.
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 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Cholinergic receptors muscarinic
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000133019
Associated Conditions (1)
Prune belly syndrome
Key Variants
RS145638222
Conflicting classifications of pathogenicity
Prune belly syndrome, Prune belly syndrome
Health Risk
RS201554378
Conflicting classifications of pathogenicity
Prune belly syndrome, Prune belly syndrome
Health Risk
RS1680093659
Pathogenic
Prune belly syndrome, Prune belly syndrome
Health Risk
RS587776862
Pathogenic
Prune belly syndrome, Prune belly syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145638222 | Health Risk | Conflicting classifications of pathogenicity | Prune belly syndrome, Prune belly syndrome |
| RS201554378 | Health Risk | Conflicting classifications of pathogenicity | Prune belly syndrome, Prune belly syndrome |
| RS1680093659 | Health Risk | Pathogenic | Prune belly syndrome, Prune belly syndrome |
| RS587776862 | Health Risk | Pathogenic | Prune belly syndrome, Prune belly syndrome |