Aliases for CHRNB3 Gene
External Ids for CHRNB3 Gene
Previous GeneCards Identifiers for CHRNB3 Gene
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]
GeneCards Summary for CHRNB3 Gene
CHRNB3 (Cholinergic Receptor, Nicotinic, Beta 3 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNB3 include epilepsy with generalized tonic-clonic seizures and juvenile absence epilepsy. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine binding. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRNB3 Gene
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