Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide 4

Alternative Names

  • CHRNA4
  • Acetylcholine Receptor, Neuronal Nicotinic, Alpha-4 Subunit
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OMIM Number

118504

NCBI Gene ID

1137

Uniprot ID

P43681

Length

35,179 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Neuronal acetylcholine receptor subunit alpha-4

Molecular Mass

69957 Da

Amino Acid Count

627

Genomic Location

chr20:63,343,223-63,378,401

Gene Map Locus
20q13.33

Description

The CHRNA4 gene codes for the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (nACHR). nAChR function as channels for neurotransmitters, and play a vital role in functions such as sleep and arousal, fatigue, anxiety, attention, pain perception, and memory. 

Mutations in this gene have been found to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and idiopathic partial epilepsy. It is also believed that they may play a key role in the development of the idiopathic generalized epilepsy syndrome (IGE) and juvenile myoclonic epilepsy (JME). 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000744.6:c.639T>C Kuwaitchr20:63350772BenignBenignEpilepsy, Idiopathic GeneralizedNG_011931.1:g.15572T>C; NM_000744.6:c.639T>C ; NP_000735.1:p.Asp213=1044393128749
NM_000744.6:c.851C>T Lebanonchr20:63350560PathogenicPathogenicEpilepsy, Nocturnal Frontal Lobe, 1NG_011931.1:g.15784C>T; NM_000744.6:c.851C>T ; NP_000735.1:p.Ser284Leu2893159117500
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