Recombinant人Rapsyn protein (ab114714)

常规信息

• 别名
  • 43 kD receptor associated protein of the synapse
  • 43 kDa postsynaptic protein
  • 43 kDa receptor-associated protein of the synapse

  • Acetylcholine receptor associated 43 kda protein
  • Acetylcholine receptor-associated 43 kDa protein
  • CMS1D
  • CMS1E
  • MGC3597
  • RAPSN
  • RAPSN_HUMAN
  • RAPsyn
  • Receptor associated protein of the synapse
  • Receptor associated protein of the synapse 43kD
  • RING finger protein 205
  • RNF 205
  • RNF205

  see all
• 功能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.
• 疾病相关Defects in RAPSN are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Postsynaptic disorders result from mutations in proteins forming the subunits of the muscle acetylcholine receptor (AChR). The kinetic abnormalities of AChR result in either prolonged ion channel activations that underlie 'slow-channel myasthenic syndromes' (SCCMS) or abbreviated channel activations that underlie the abnormally rapid decay of endplate currents in 'fast-channel syndromes' (FCCMS). ACHRDCMS is the third disorder associated with postsynaptic CMS which could result from mutations in the proteins forming the muscle AChR. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance.
  Defects in RAPSN are the cause of fetal akinesia deformation sequence (FADS) [MIM:208150]; 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.
• 序列相似性Belongs to the RAPsyn family.
  Contains 1 RING-type zinc finger.
  Contains 7 TPR repeats.
• 结构域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.
• 细胞定位Cell membrane. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic surface of postsynaptic membranes.

• Target information above from: UniProt accession Q13702 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt