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Protein Page:
nAChRG (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral
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
Reference #:  P07510 (UniProtKB)
Alt. Names/Synonyms: Acetylcholine receptor subunit gamma; acetylcholine receptor, muscle, gamma subunit; ACHG; ACHRG; cholinergic receptor, nicotinic, gamma; cholinergic receptor, nicotinic, gamma polypeptide; CHRNG; MGC133376
Gene Symbols: CHRNG
Molecular weight: 57,883 Da
Basal Isoelectric point: 5.86  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease
Select Structure to View Below

nAChRG

Protein Structure Not Found.
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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment



 LTP 

LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 HTP 

HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T285‑p INVLLAQtVFLFLVA
0 1 T316‑p LTFLLVVtILIVVNA
0 1 S330‑p AVVVLNVsLRSPHTH
1 0 S378 QSRLQNGSSGWSITT
0 1 Y512‑p FPGDPRPyLPSPD__
  mouse

 
T285 TNVLLAQTVFLFLVA
T316 LTFLMVVTILIVVNS
S330 SVVVLNVSLRSPHTH
S378 RFRLQNGSSSGWPIM
Y514 FPGDPRPYLPLPD__
  torpedo

 
T280 ISVLLAQTIFLFLIA
S311 LIFVMFVSMLIVMNC
S325 CVIVLNVSLRTPNTH
S370‑p KPQPRRRsSFGIMIK
Y504 FPGDPRKYVP_____
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