CHRNB4 Chromosome 15

Cholinergic receptor nicotinic beta 4 subunit
2 variants 2 Health Risk

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What This Gene Does
This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
15q25.1
Ensembl
ENSG00000117971
Associated Conditions (1)
Frontotemporal dementia
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS2141385401 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS774714066 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
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