Gene Name:cholinergic receptor, nicotinic, alpha 1 (muscle), gene 2
Gene Function:acetylcholine receptor
Protein Function :
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.
Disease Ontology:multiple pterygium syndrome
OMIM:MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS
|Expression||Development Stages Embryonic Tissues Adult Tissues|
Symbol legend: Blast sequence View sequence Literature or expression images Hover cursor for info