CHRNG
entrez
1146
canonical
uniprot
P07510
canonical
ensembl
ENSG00000196811
resolver
ensp
ENSP00000498757
resolver
genesymbol
CHRNG
resolver
genesymbol_syn
ACHRG
resolver
hgnc
HGNC:1967
resolver
uniprot
B3KWM8
resolver
uniprot
Q14DU4
resolver
uniprot
Q53RG2
resolver
uniprot_entry
ACHG_HUMAN
resolver
uniprot_sec
B3KWM8
resolver
uniprot_sec
Q14DU4
resolver
uniprot_sec
Q53RG2
resolver
amino_acid_sequence
MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRKPLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQAVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVRPLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGPELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAMLSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD
uniprot
proteins
disease_involvement
DISEASE: Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: 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. {ECO:0000269|PubMed:16826520, ECO:0000269|PubMed:16826531}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: 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. {ECO:0000269|PubMed:16826520, ECO:0000269|PubMed:16826531}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
57883
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Gamma/CHRNG sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16826520
uniprot
proteins
pubmed
16826531
uniprot
proteins
pubmed
3967651
uniprot
proteins
pubmed
7688301
uniprot
proteins
sequence_length
517
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 241..265; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 275..293; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 309..330; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 475..495; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins