cholinergic receptor nicotinic beta 1 subunit

Summary
Gene Symbol
  • CHRNB1
Organism
Homo sapiens (human)
NCBI Gene
1140
PubChem
1140
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Congenital myasthenic syndrome
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Ligand-gated ion channel
  • Phosphoprotein
  • Postsynaptic cell membrane
  • Receptor
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P11230
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110680 congenital myasthenic syndrome 2C
DOID:0110681 congenital myasthenic syndrome 2A
Ortholog
Displaying entry 101 - 101 of 101 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
118301418 SCOMX24995

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025