CHRM3 gene

cholinergic receptor muscarinic 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Prune belly syndrome

From UniProt:

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. [MIM:100100]

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43

Molecular Location: base pairs 239,386,565 to 239,915,450 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43
  • EGBRS
  • HM3
  • PBS