Aliases for CHRNG Gene
External Ids for CHRNG Gene
Previous HGNC Symbols for CHRNG Gene
Previous GeneCards Identifiers for CHRNG Gene
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
GeneCards Summary for CHRNG Gene
CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit) is a Protein Coding gene. Diseases associated with CHRNG include Multiple Pterygium Syndrome, Escobar Variant and Multiple Pterygium Syndrome, Lethal Type. Among its related pathways are Transmission across Chemical Synapses and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNE.
UniProtKB/Swiss-Prot Summary for CHRNG 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.