Aliases for CHRNE Gene
- Cholinergic Receptor Nicotinic Epsilon Subunit 2 3 5
- Acetylcholine Receptor, Nicotinic, Epsilon (Muscle) 2 3
- Cholinergic Receptor, Nicotinic, Epsilon (Muscle) 2 3
- Cholinergic Receptor, Nicotinic Epsilon 2 3
- Acetylcholine Receptor Subunit Epsilon 3 4
- ACHRE 3 4
- Cholinergic Receptor, Nicotinic, Epsilon Polypeptide 3
- Cholinergic Receptor, Nicotinic, Epsilon 2
External Ids for CHRNE Gene
Previous GeneCards Identifiers for CHRNE Gene
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
GeneCards Summary for CHRNE Gene
CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit) is a Protein Coding gene. Diseases associated with CHRNE include Myasthenic Syndrome, Congenital, 4A, Slow-Channel and Myasthenic Syndrome, Congenital, 4B, Fast-Channel. Among its related pathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNG.
UniProtKB/Swiss-Prot Summary for CHRNE 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.