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The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.
Gene Name: | cholinergic receptor, nicotinic, beta 1 (muscle) |
Family/Subfamily: | Ion Channel , Nicotinic acetylcholine receptor |
Synonyms: | CHRNB1, AChR-beta1, ACHRB, CHRNB, CMS1D, Acrb1, SCCMS, CMS2A, NAChR beta1 |
Target Sequences: | NM_000747 NP_000738.2 P11230 |
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