Recombinant Human Acetylcholine receptor subunit gamma (CHRNG), Truncated,Mammalian cell

Uniprot Id

P07510

Target Species

Human

Target Name

CHRNG

Target Full Name

Acetylcholine receptor subunit gamma

Target Function

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.

Target Involvement

Multiple pterygium syndrome, lethal type (LMPS); Multiple pterygium syndrome, Escobar variant (EVMPS)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Gamma/CHRNG sub-subfamily

Target Research Area

Neuroscience

Target Synonyms

Acetylcholine receptor muscle gamma subunit; Acetylcholine receptor protein gamma chain precursor; Acetylcholine receptor subunit gamma; ACHG; ACHG_HUMAN; Achr 3; AChR; Achr3; ACHRG; ACRG; Cholinergic receptor nicotinic gamma; Cholinergic receptor nicotinic gamma polypeptide; CHRNG; MGC133376

Target Background

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.