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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005199 Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol CHRNG
Entrez Gene ID 1146
Full Name cholinergic receptor, nicotinic, gamma (muscle)
Synonyms ACHRG
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q37.1

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 ORF Sequence $550.00
KEGG
hsa04080Neuroactive ligand-receptor interaction
Reactome
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_13477Transmission across Chemical Synapses
REACT_15461Acetylcholine Binding And Downstream Events
REACT_13685Neuronal System
REACT_22149Postsynaptic nicotinic acetylcholine receptors
REACT_22126Activation of Nicotinic Acetylcholine Receptors
REACT_22336Presynaptic nicotinic acetylcholine receptors
REACT_22223Highly sodium permeable acetylcholine nicotinic receptors
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)LOC100536659NP_001241879.1
Xenopus (Silurana) tropicalis (western clawed frog)chrngNP_001096503.1
Process
IDNameEvidence
GO:0006810transportTAS
GO:0006812cation transportIEA
GO:0006936muscle contractionTAS
GO:0007165signal transductionTAS
GO:0007268synaptic transmissionTAS
GO:0034220ion transmembrane transportIEA
GO:0042391regulation of membrane potentialIEA
GO:0055085transmembrane transportTAS
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0005892acetylcholine-gated channel complexIEA
GO:0030054cell junctionIEA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0004889acetylcholine-activated cation-selective channel activityIEA
GO:0015267channel activityTAS
GO:0015464acetylcholine receptor activityTAS
GeneCards CHRNG
UniProt P07510
Vega OTTHUMG00000153327
MIM 100730
Ensembl ENSG00000196811
HGNC 1967
HPRD 00009

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

What is the normal function of the CHRNG gene?

The CHRNG gene provides instructions for making the gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits, each of which is produced from a different gene. The subunits are assembled into the AChR protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport, before being transported to the cell membrane. The γ subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the γ subunit is replaced by the epsilon (ε) subunit, which is produced by the CHRNE gene, to form the adult AChR protein.

Interactant

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