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CHRNG cholinergic receptor, nicotinic, gamma [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_005199 Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA. ORF Sequence $450.66
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Gene Symbol CHRNG
Entrez Gene ID 1146
Full Name cholinergic receptor, nicotinic, gamma
Synonyms ACHRG, MGC133376
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q33-q34

Summary 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].
Disorder

MIM: 100730

Myasthenia gravis, neonatal transient (2); Escobar syndrome, 265000

mRNA Protein Product Sequence Price Select
NM_005199, 61743913 NP_005190, 61743914 acetylcholine receptor subunit gamma precursor Full Length $634.23
ORF Sequence $450.66
KEGG
hsa04080Neuroactive ligand-receptor interaction
Reactome
REACT_15461Acetylcholine Binding And Downstream Events
REACT_22149Postsynaptic nicotinic acetylcholine receptors
REACT_13685Neuronal System
REACT_22126Activation of Nicotinic Acetylcholine Receptors
REACT_22336Presynaptic nicotinic acetylcholine receptors
REACT_22223Highly sodium permeable acetylcholine nicotinic receptors
REACT_13477Transmission across Chemical Synapses
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
Homo sapiens (human)CHRNGNP_005190.4
Pan troglodytes (chimpanzee)CHRNGXP_526063.1
Macaca mulatta (Rhesus monkey)CHRNGXP_001114133.2
Canis lupus familiaris (dog)CHRNGXP_543289.2
Bos taurus (cattle)CHRNGNP_776698.1
Mus musculus (house mouse)ChrngNP_033734.3
Rattus norvegicus (Norway rat)ChrngNP_062018.1
Gallus gallus (chicken)CHRNGNP_001026739.1
Danio rerio (zebrafish)LOC100536659XP_003197973.1
GeneCards CHRNG
UniProt P07510
MIM 100730
Ensembl ENSG00000196811
HGNC 1967
HPRD 00009

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
acetylcholine receptor subunit gamma
Names
acetylcholine receptor subunit gamma
acetylcholine receptor, muscle, gamma subunit
acetylcholine receptor, nicotinic, gamma (muscle)
cholinergic receptor, nicotinic, gamma polypeptide

Interactant

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