突触受体相关蛋白43抗体
规格：1mg/1ml
英文名： Rapsyn
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 recept
分子量： 38kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Rapsyn
交叉反应：Human, Mouse, Rat, Chicken, Xenopus laevis
细胞定位：细胞膜
突触受体相关蛋白43抗体产品介绍：background: This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] Function: 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. Subcellular Location: Cell membrane. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic surface of postsynaptic membranes. DISEASE: 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 突触受体相关蛋白43抗体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突触受体相关蛋白43抗体 hypoplasia, polyhydramnios and craniofacial abnormalities. Similarity: Belongs to the RAPsyn family. Contains 1 RING-type zinc finger. Contains 7 TPR repeats. Gene ID: 5913 Database links: Entrez Gene: 5913 Human Entrez Gene: 19400 Mouse Entrez Gene: 362161 Rat Omim: 601592 Human SwissProt: Q13702 Human SwissProt: P12672 Mouse Unigene: 81218 Human Unigene: 1272 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
突触受体相关蛋白43抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 神经生物学 细胞骨架
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid