CHRNA1

Chr 2

cholinergic receptor nicotinic alpha 1 subunit

Also known as: ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS

NCBI Gene: 1134 ENSG00000138435 UniProt: P02708

The protein encodes the alpha subunit of the muscle acetylcholine receptor, which binds acetylcholine and gates the ion channel at the neuromuscular junction. Mutations cause congenital myasthenic syndromes (both slow-channel and fast-channel types) and lethal multiple pterygium syndrome through gain-of-function mechanisms. Inheritance is autosomal recessive for most phenotypes, though autosomal dominant transmission occurs in slow-channel myasthenic syndrome.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMultiple pterygium syndrome, lethal type

UniProtMyasthenic syndrome, congenital, 1A, slow-channel

UniProtMyasthenic syndrome, congenital, 1B, fast-channel

Clinical highlights

Gene-disease validity (ClinGen)

myasthenic syndrome, congenital, 1B, fast-channel · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.08

LOEUF

LOF

Mechanism· G2P

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