5 articles
CHRNA3
CHRNA3, the cholinergic receptor nicotinic alpha 3 gene at 15q25.1 in the CHRNA5-A3-B4 cluster, encodes the α3 nicotinic acetylcholine receptor subunit, key to ganglionic transmission, nicotine dependence genetics, and CAKUT-dysautonomia.
CHRNA4
CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit, HGNC:1958) is a human chromosome 20 gene encoding the alpha-4 nicotinic acetylcholine receptor subunit; gain-of-function mutations cause sleep-related hypermotor epilepsy and variants affect nicotine dependence.
CHRNA5
CHRNA5 (LNCR2), chromosome 15q25.1 gene encoding the α5 nicotinic acetylcholine receptor subunit; its rs16969968 D398N variant predicts nicotine dependence, smoking cessation age, and lung cancer risk in Europeans.
CHRNA7
CHRNA7 (a7nAChR, HGNC:1960) is the human chromosome 15q13.3 gene encoding the alpha-7 nicotinic acetylcholine receptor subunit, a homopentameric calcium-permeable ion channel; its partial duplication formed the human-specific dominant-negative gene CHRFAM7A.
GABRA1
GABRA1 (EJM, ECA4, DEE19) is a human gene on chromosome 5q34 encoding the alpha-1 subunit of the GABA_A receptor, a chloride channel; mutations cause juvenile myoclonic epilepsy, childhood absence epilepsy, and epileptic encephalopathy.