CHRNB1

Chr 17ARAD

cholinergic receptor nicotinic beta 1 subunit

Also known as: ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS

NCBI Gene: 1140 ENSG00000170175 UniProt: P11230 OMIM: 100710

This gene encodes the beta subunit of the muscle acetylcholine receptor, which opens an ion channel across the postsynaptic membrane when acetylcholine binds. Mutations cause congenital myasthenic syndrome with either slow-channel kinetics (autosomal dominant, gain-of-function mechanism) or acetylcholine receptor deficiency (autosomal recessive). The dominant form results from prolonged channel opening, while the recessive form involves receptor deficiency.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiencyMIM #616314

Myasthenic syndrome, congenital, 2A, slow-channelMIM #616313

Clinical highlights

Gene-disease validity (ClinGen)

congenital myasthenic syndrome 2C · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

LOEUF

Multiple*

Mechanism· G2P

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GeneReview available — CHRNB1