DISEASES

Disease-gene associations mined from literature

Literature associating CHRND and fetal akinesia deformation sequence syndrome

CHRND [ENSP00000258385]

Cholinergic receptor, nicotinic, delta (muscle); 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; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily.

Synonyms:  CHRND,  B4DKT6,  C9JJV8,  F8WB46,  F8WBS0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM