CHRNA1 cholinergic receptor nicotinic alpha 1 subunit

Gene ID: 1134, updated on 4-Aug-2024
Gene type: protein coding
Also known as: ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS

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. [provided by RefSeq, Nov 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
CHRNA1-Related Congenital Myasthenic Syndrome MedGen: CN119608GeneReviews: Congenital Myasthenic Syndromes Overview	See labs
Congenital myasthenic syndrome 1A MedGen: C2931107OMIM: 601462GeneReviews: Congenital Myasthenic Syndromes Overview	See labs
Lethal multiple pterygium syndrome MedGen: C1854678OMIM: 253290GeneReviews: Not available	See labs
Myasthenic syndrome, congenital, 1B, fast-channel MedGen: C4225405OMIM: 608930GeneReviews: Congenital Myasthenic Syndromes Overview	See labs

Genomic context

Location:: 2q31.1

Sequence:: Chromosome: 2; NC_000002.12 (174747592..174764472, complement)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CHRNA1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CHRNA1 database
CHRNA1 homepage - Leiden Muscular Dystrophy pages
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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