CHRM3
Function
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.
Involvement in disease
Prune belly syndrome
PBS
A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Postsynaptic cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Colocalizes with TMEM147 in the endoplasmic reticulum (ER) membrane. TMEM147 impairs its trafficking to the cell membrane leading to its retention in the ER membrane.
Alternative names
Muscarinic acetylcholine receptor M3, CHRM3