Function
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Gene References into Functions
- Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe... PMID: 27375219
- This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types. PMID: 28153524
- These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits. PMID: 24240098
- Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions. PMID: 22406075
- the beta1 subunit showed significantly increased expression in lung tumors as compared to non-tumor bronchial tissue PMID: 17015027
- Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating. PMID: 19279256
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Involvement in disease
Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A); Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C)
Subcellular Location
Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Protein Families
Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Beta-1/CHRNB1 sub-subfamily
