CHRNG

GENE INFORMATION

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Gene name

CHRNG (HGNC Symbol)

Synonyms

ACHRG

Description

cholinergic receptor, nicotinic, gamma (muscle) (HGNC Symbol)

Entrez gene 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]

Chromosome

2 (Chromosome progress)

Cytoband

q37.1

Chromosome location (bp)

233404437 - 233411113

Ensembl

ENSG00000196811 (version 73.37)

Entrez gene

1146

UniProt

P07510 (UniProt - Evidence at protein level)

neXtProt

NX_P07510

Antibodypedia

CHRNG antibodies
 

PROTEIN VIEW

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CHRNG-001
 
CHRNG-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHRNG-001 ENSP00000374145
ENST00000389494
P07510
Show all »
Show » Show » 517 57.9 Yes 4
CHRNG-004 ENSP00000374143
ENST00000389492
H7BYH0
Show all »
Show » Show » 465 52 Yes 4