DISEASES

Disease-gene associations mined from literature

Literature associating CHRNA4 and distal arthrogryposis type 1

CHRNA4 [ENSP00000359285]

Neuronal acetylcholine receptor subunit alpha-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub- subfamily.

Synonyms:  CHRNA4,  CHRNA4p,  hCHRNA4,  A0A0D9SFU6,  H0YBH1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM