Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1

Alternative Names

  • CHRNA1
  • CHRNA
  • Acetylcholine Receptor, Muscle, Alpha Subunit
  • ACHRA
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OMIM Number

100690

NCBI Gene ID

1134

Uniprot ID

P02708

Length

16,881 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Acetylcholine receptor subunit alpha

Molecular Mass

51839 Da

Amino Acid Count

457

Genomic Location

chr2:174,747,592-174,764,472

Gene Map Locus
2q31.1

Description

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000079.4:c.440_444delSaudi ArabiaNC_000002.12:g.174754316_174754320delLikely PathogenicLikely PathogenicMyasthenic Syndrome, Congenital, 1A, Slow-ChannelNG_008172.1:g.15154_15158del; NM_000079.4:c.440_444del; NP_000070.1:p.Ser146_Tyr147insTer3362606
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