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GENE AND PROTEIN SUMMARY

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Gene name

CHRNG

Description

cholinergic receptor, nicotinic, gamma (muscle)

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
3 with predicted TM region
3 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Not detected

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Not detected

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Low

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Low

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Not detected

-

-

ANTIBODY SUMMARY

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Pending antibodies