RAPSN
Domain
A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.
Function
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.
Involvement in disease
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
CMS11
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.
None
The disease is caused by variants affecting the gene represented in this entry.
Fetal akinesia deformation sequence 2
FADS2
A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.
Sequence Similarities
Belongs to the RAPsyn family.
Cellular localization
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Postsynaptic cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cytoskeleton
- Cytoplasmic surface of postsynaptic membranes.
Alternative names
RNF205, RAPSN, 43 kDa receptor-associated protein of the synapse, RAPsyn, 43 kDa postsynaptic protein, Acetylcholine receptor-associated 43 kDa protein, RING finger protein 205