nicotinic receptor alpha-1; acetylcholine receptor subunit alpha-1 (CHRNA1, ACHRA, CHNRA)

Function

• alpha chain of nicotinic receptor

Structure

• belongs to the ligand-gated ionic channel (TC 1.A.9) family

Compartment

• cell junction, synapse
• postsynaptic cell membrane

Alternative splicing

named isoforms=2

Expression

• isoform 1 is differentially expressed only in skeletal muscle
• isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver lung & thymus

Pathology

• defects in CHRNA1 are a cause of
  • lethal type multiple pterygium syndrome
  • congenital myasthenic syndrome
    • slow-channel type
    • fast-channel type
• the alpha subunit is the main focus for antibody binding in myasthenia gravis

More general terms

• nicotinic receptor alpha

Database

• OMIM: https://mirror.omim.org/entry/100690
• OMIM: https://mirror.omim.org/entry/253290
• OMIM: https://mirror.omim.org/entry/254200
• OMIM: https://mirror.omim.org/entry/601462
• OMIM: https://mirror.omim.org/entry/608930
• UniProt: http://www.uniprot.org/uniprot/P02708.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1134