Acetylcholine Receptor Subunit Gamma (CHRNG) Human Recombinant Protein

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]

nAChRG: 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 CHRNG are a cause of multiple pterygium syndrome lethal type (MUPSL). Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. Defects in CHRNG are a cause of multiple pterygium syndrome Escobar variant (MUPSE); also known as nonlethal type multiple pterygium syndrome. Escobar syndrome is a non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. is a. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily.

Protein type: Channel, ligand-gated; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: cell junction; integral to plasma membrane; nicotinic acetylcholine-gated receptor-channel complex; plasma membrane; postsynaptic membrane

Molecular Function: acetylcholine binding; acetylcholine receptor activity; channel activity; nicotinic acetylcholine-activated cation-selective channel activity; protein binding

Biological Process: muscle contraction; neuromuscular synaptic transmission; regulation of membrane potential; response to nicotine; signal transduction; synaptic transmission; synaptic transmission, cholinergic; transport

Disease: Multiple Pterygium Syndrome, Escobar Variant; Multiple Pterygium Syndrome, Lethal Type