2csa

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Template:STRUCTURE 2csa

Contents 1 Structure of the M3 Muscarinic Acetylcholine Receptor Basolateral Sorting Signal 2 Disease 3 Function 4 About this Structure 5 Reference

Structure of the M3 Muscarinic Acetylcholine Receptor Basolateral Sorting Signal

Template:ABSTRACT PUBMED 15870063

Disease

[ACM3_HUMAN] Defects in CHRM3 are the cause of Eagle-Barrett syndrome (EGBRS) [MIM:100100]. EGBRS is a syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.^[1]

Function

[ACM3_HUMAN] 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.

About this Structure

2csa is a 1 chain structure. Full experimental information is available from OCA.

Reference

1. ↑ Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. PMID:22077972 doi:10.1016/j.ajhg.2011.10.007