Gene: CHRNA1

Alternate names for this Gene: ACHRA|ACHRD|CHRNA|CMS1A|CMS1B|CMS2A|FCCMS|SCCMS

Gene Summary: The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: cholinergic receptor nicotinic alpha 1 subunit

Type of Gene: protein-coding

rs545520806 in CHRNA1 gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs2600683 in CHRNA1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs137852801 in CHRNA1 gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 7619526 1995 Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

PMID 9158151 1997 Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

PMID 6287911 1982 A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel.

PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PMID 27748205 2017 Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

PMID 24121633 2013 HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.

rs137852798 in CHRNA1 gene and MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL PMID 7619526 1995 Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

PMID 16685696 2006 Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

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

PMID 9221765 1997 Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

PMID 9158151 1997 Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

rs137852804 in CHRNA1 gene and MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL PMID 15079006 2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PMID 12588888 2003 Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

PMID 10195214 1999 Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

rs137852803 in CHRNA1 gene and Muscle hypotonia PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PMID 25305004 2014 Inherited disorders of the neuromuscular junction: an update.

PMID 15079006 2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PMID 18806275 2008 hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.