NP_033731.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,931 Da
NCBI Official Full Name
acetylcholine receptor subunit beta
NCBI Official Synonym Full Names
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
NCBI Official Synonym Symbols
NCBI Protein Information
acetylcholine receptor subunit beta
UniProt Protein Name
Acetylcholine receptor subunit beta
UniProt Synonym Gene Names
UniProt Comments for CHRNB1
nAChRB1: 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. Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS). SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily.
Protein type: Channel, cation; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 11 B3|11 42.87 cM
Cellular Component: acetylcholine-gated channel complex; cell junction; integral component of membrane; membrane; plasma membrane; postsynaptic membrane; synapse
Molecular Function: acetylcholine binding; acetylcholine receptor activity; acetylcholine-gated cation channel activity; channel activity; extracellular ligand-gated ion channel activity; ion channel activity; ligand-gated ion channel activity; protein binding
Biological Process: behavioral response to nicotine; cation transport; ion transport; muscle contraction; muscle fiber development; neurological system process; neuromuscular synaptic transmission; postsynaptic membrane organization; regulation of membrane potential; response to nicotine; signal transduction; skeletal muscle contraction; synaptic transmission, cholinergic; transport
Research Articles on CHRNB1
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Pathways associated with CHRNB1 elisa kit
Diseases associated with CHRNB1 elisa kit
Organs/Tissues associated with CHRNB1 elisa kit
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