DISEASES

Disease-gene associations mined from literature

Literature associating RAPSN and congenital myasthenic syndrome 5

RAPSN [ENSP00000298854]

43 kDa receptor-associated protein of the synapse; Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin; Ring finger proteins

Synonyms:  RAPSN,  E9PK11,  Q13702,  E9PK11p,  hE9PK11 ...

Linkouts:  STRING  Pharos  UniProt  OMIM