NP_005190.4
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
27.5 kDa
NCBI Official Full Name
acetylcholine receptor subunit gamma
NCBI Official Synonym Full Names
cholinergic receptor nicotinic gamma subunit
NCBI Official Synonym Symbols
NCBI Protein Information
acetylcholine receptor subunit gamma
UniProt Protein Name
Acetylcholine receptor subunit gamma
UniProt Synonym Gene Names
UniProt Entry Name
ACHG_HUMAN
NCBI Summary for CHRNG
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]
UniProt Comments for CHRNG
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
Product References and Citations for CHRNG recombinant protein
"Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor." Shibahara S., Kubo T., Perski H.J., Takahashi H., Noda M., Numa S. Eur. J. Biochem. 146:15-22(1985)
Research Articles on CHRNG
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with CHRNG recombinant protein
Pathways associated with CHRNG recombinant protein
Diseases associated with CHRNG recombinant protein
Organs/Tissues associated with CHRNG recombinant protein
|