NCBI and Uniprot Product Information
Uniprot Description
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: Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated
Chromosomal Location of Human Ortholog: 2q37.1
Cellular Component: integral to plasma membrane; nicotinic acetylcholine-gated receptor-channel complex; plasma membrane
Molecular Function: acetylcholine binding; acetylcholine receptor activity; channel activity; ligand-gated ion channel activity; nicotinic acetylcholine-activated cation-selective channel activity; protein binding
Biological Process: muscle contraction; neuromuscular synaptic transmission; response to nicotine; signal transduction; synaptic transmission, cholinergic; transport
Disease: Multiple Pterygium Syndrome, Escobar Variant; Multiple Pterygium Syndrome, Lethal Type
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Product Notes
The CHRNG chrng (Catalog #AAA7045068) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The CHRNG Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's CHRNG can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Researchers should empirically determine the suitability of the CHRNG chrng for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "CHRNG, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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