Recombinant Human Acetylcholine receptor subunit beta (CHRNB1), Truncated

Uniprot Id

P11230

Target Species

Human

Target Name

CHRNB1

Target Full Name

Acetylcholine receptor subunit beta

Target 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.

Target Involvement

Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A); Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Beta-1/CHRNB1 sub-subfamily

Target Research Area

Neuroscience

Target Synonyms

Acetylcholine receptor protein beta chain precursor; Acetylcholine receptor subunit beta; ACHB_HUMAN; AChR; ACHRB; Cholinergic receptor nicotinic beta polypeptide 1 (muscle); Chrnb 1; CHRNB; chrnb1; CMS1D; CMS2A; Nicotinic acetylcholine receptor beta subunit precursor; SCCMS

Target Background

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.