Gene: CHRNE

Alternate names for this Gene: ACHRE|CMS1D|CMS1E|CMS2A|CMS4A|CMS4B|CMS4C|FCCMS|SCCMS

Gene Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: cholinergic receptor nicotinic epsilon subunit

Type of Gene: protein-coding

Gene: C17orf107

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: chromosome 17 open reading frame 107

Type of Gene: protein-coding

rs121909512 in CHRNE;C17orf107 gene and MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

rs121909512 in CHRNE;C17orf107 gene and MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL PMID 10962020 2000 Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.

PMID 22592360 2012 Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

rs121909514 in CHRNE;C17orf107 gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 9158150 1997 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

rs762368691 in CHRNE;C17orf107 gene and Myasthenic Syndromes, Congenital PMID 29383513 2018 A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

PMID 20562457 2010 Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

PMID 29054425 2017 Molecular characterization of congenital myasthenic syndromes in Spain.

PMID 9708546 1998 Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.