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

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

rs121909510 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL PMID 27375219 2016 Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

PMID 7531341 1995 Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

PMID 7538206 1995 A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.

PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 12141316 2002 Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

PMID 21822932 2012 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

PMID 27779167 2016 A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.

PMID 14592868 2003 Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

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

PMID 12417530 2002 Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

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.

rs121909516 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 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.

PMID 10962020 2000 Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.

rs121909515 in C17orf107;CHRNE 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.

PMID 9668239 1998 A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

PMID 10514102 1999 Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

PMID 16550914 2005 Splicing abnormalities in congenital myasthenic syndromes.

rs763258280 in C17orf107;CHRNE gene and Myasthenic Syndromes, Congenital PMID 10534268 1999 A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

PMID 15322984 2004 Mutation history of the roma/gypsies.

PMID 15951177 2005 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

PMID 21150643 2011 Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

PMID 27717316 2016 A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

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.