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Gene : CHRNG Homo sapiens

Name  ? cholinergic receptor nicotinic gamma subunit Cytological Location  2q37.1
Brief Description  cholinergic receptor nicotinic gamma subunit
Description  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]
  • synonyms:
  • cholinergic receptor, nicotinic, gamma,
  • X01715,
  • cholinergic receptor, nicotinic gamma,
  • ACHRG,
  • cholinergic receptor, nicotinic, gamma (muscle),
  • uc002vsx.1,
  • acetylcholine receptor, nicotinic, gamma (muscle),
  • OTTHUMG00000153327,
  • HGNC:1967,
  • NM_005199,
  • ACHRG,
  • CHRNG
  • identifiers:
  • 1146,
  • ENSG00000196811,
  • CHRNG

Genome feature

Region: gene ? Length: 8424  
Location: 2:232539692-232548115 Cyto location: 2q37.1


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

181 SN Ps

5 Cross References

19 Data Sets

24 Homologues

0 Located Features

97 Rna Seq Results