CHRM3

Chr 1AR

cholinergic receptor muscarinic 3

Also known as: EGBRS, HM3, PBS, m3AChR

NCBI Gene: 1131 ENSG00000133019 UniProt: P20309 OMIM: 118494

The muscarinic cholinergic receptor 3 mediates cellular responses to acetylcholine including adenylate cyclase inhibition, phosphoinositide breakdown, and potassium channel modulation, and controls smooth muscle contraction and glandular secretion. Mutations cause prune belly syndrome with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating its critical functional importance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Prune belly syndromeMIM #100100

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.25

LOEUF· LoF intol.

Multiple*

Mechanism· predicted