Aliases for CHRND Gene
- Cholinergic Receptor Nicotinic Delta Subunit 2 3 5
- Acetylcholine Receptor, Nicotinic, Delta (Muscle) 2 3
- Cholinergic Receptor, Nicotinic, Delta (Muscle) 2 3
- Cholinergic Receptor, Nicotinic Delta 2 3
- Acetylcholine Receptor Subunit Delta 3 4
- ACHRD 3 4
- Cholinergic Receptor, Nicotinic, Delta Polypeptide 3
External Ids for CHRND Gene
Previous HGNC Symbols for CHRND Gene
Previous GeneCards Identifiers for CHRND Gene
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
GeneCards Summary for CHRND Gene
CHRND (Cholinergic Receptor Nicotinic Delta Subunit) is a Protein Coding gene. Diseases associated with CHRND include Multiple Pterygium Syndrome, Lethal Type and Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency. 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 and ligand-gated ion channel activity. An important paralog of this gene is CHRNG.
UniProtKB/Swiss-Prot Summary for CHRND 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.