CHRND
entrez
1144
canonical
uniprot
Q07001
canonical
ensembl
ENSG00000135902
resolver
ensp
ENSP00000258385
resolver
ensp
ENSP00000438380
resolver
genesymbol
CHRND
resolver
genesymbol_syn
ACHRD
resolver
hgnc
HGNC:1965
resolver
uniprot
A8K661
resolver
uniprot
B4DT92
resolver
uniprot
B4E3W4
resolver
uniprot
Q52LH4
resolver
uniprot_entry
ACHD_HUMAN
resolver
uniprot_entry
B4E3W4_HUMAN
resolver
uniprot_sec
A8K661
resolver
uniprot_sec
B4DT92
resolver
uniprot_sec
Q52LH4
resolver
amino_acid_sequence
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
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:18252226}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269|PubMed:11782989}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269|PubMed:11435464, ECO:0000269|PubMed:12499478, ECO:0000269|PubMed:18398509}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) [MIM:616323]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269|PubMed:16916845, ECO:0000269|PubMed:18398509}. 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. {ECO:0000269|PubMed:27375219}.
uniprot
proteins
mass_dalton
58895
uniprot
proteins
mutagenesis
MUTAGEN 290; /note="V->A: Increased length of channel opening."; /evidence="ECO:0000269|PubMed:27375219
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Delta/CHRND sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
11435464
uniprot
proteins
pubmed
11782989
uniprot
proteins
pubmed
12499478
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609996
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16916845
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18252226
uniprot
proteins
pubmed
18398509
uniprot
proteins
pubmed
2564429
uniprot
proteins
pubmed
27375219
uniprot
proteins
pubmed
8872460
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 246..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 278..299; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 312..333; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 472..490; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins