Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Defects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). A postsynaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS); also known as Pena- Shokeir syndrome type 1 or fetal akinesia sequence or arthrogryposis multiplex congenita with pulmonary hypoplasia. FADS is a rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities. Belongs to the RAPsyn family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Motility/polarity/chemotaxis; Ubiquitin conjugating system
Alt. Names/Synonyms: 43 kDa postsynaptic protein; 43 kDa receptor-associated protein of the synapse; Acetylcholine receptor-associated 43 kDa protein; CMS1D; CMS1E; MGC3597; RAPSN; RAPsyn; receptor-associated protein of the synapse; receptor-associated protein of the synapse, 43kD; RING finger protein 205; RNF205