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Gene : CHRND Homo sapiens

Name  ? cholinergic receptor nicotinic delta subunit Cytological Location  2q37.1
Brief Description  cholinergic receptor nicotinic delta subunit
Description  The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
  • synonyms:
  • CMS3A,
  • CMS3B,
  • ACHRD,
  • cholinergic receptor, nicotinic, delta,
  • HGNC:1965,
  • SCCMS,
  • uc002vsw.5,
  • CMS3C,
  • CMS2A,
  • FCCMS,
  • ACHRD,
  • X55019,
  • cholinergic receptor, nicotinic delta,
  • acetylcholine receptor, nicotinic, delta (muscle),
  • CHRND,
  • NM_000751,
  • OTTHUMG00000133261,
  • cholinergic receptor, nicotinic, delta (muscle)
  • identifiers:
  • 1144,
  • ENSG00000135902,
  • CHRND

Genome feature

Region: gene ? Length: 11748  
Location: 2:232526160-232537907 Cyto location: 2q37.1


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Proteins

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SNPs

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Disease

4 Diseases

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

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Expression

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Other

199 SN Ps

5 Cross References

18 Data Sets

24 Homologues

0 Located Features

97 Rna Seq Results