Gene: CHRNB2

Alternate names for this Gene: EFNL3|nAChRB2

Gene Summary: Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: cholinergic receptor nicotinic beta 2 subunit

Type of Gene: protein-coding

Gene: LOC107985206

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rs746480833 in CHRNB2;LOC107985206 gene and Dysmorphic features PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs746480833 in CHRNB2;LOC107985206 gene and Muscle hypotonia PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.