1. Gene
  2. Chrne - cholinergic receptor, nicotinic, epsilon polypeptide Gene

Chrne - cholinergic receptor, nicotinic, epsilon polypeptide Gene

Mus musculus

Also known as Acre; nAChRE; AChrepsilon

Gene ID: 11448 | Gene type: protein coding

About Chrne

Summary

This gene encodes the epsilon subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. In mice, deficiency of this gene can lead to a decline in the number of nicotinic acetylcholine receptors at neuromuscular junctions and causes progressive muscle weakness, atrophy and premature death. Mutations in this gene serve as a pathophysiological model for human congenital myasthenia. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Nov 2012]

Chrne Products(1)

mRNA Protein Name
NM_009603.1 NP_033733.1 acetylcholine receptor subunit epsilon precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to acetylcholine-gated monoatomic cation-selective channel activity IGI
IGI: Inferred from genetic interaction
2383398 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within regulation of membrane potential IGI
IGI: Inferred from genetic interaction
2383398 MGI
Cellular Component GO Annotation Evidence Reference Source
is active in neuromuscular junction IDA
IDA: Inferred from direct assay
4781450 MGI
located in postsynaptic membrane IDA
IDA: Inferred from direct assay
15883046 MGI
is active in postsynaptic specialization membrane IDA
IDA: Inferred from direct assay
4781450 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

acetylcholine receptor subunit epsilon

AchR epsilon subunit

nicotinic acetylcholine receptor epsilon subunit

Orthologs Information

Species Symbol Source ID
Homo sapiens Chrne NCBI NCBI:1145