BD-PT6963

RAPSN Rabbit Polyclonal Antibody

常规抗体

RAPSN RNF205

RAPSN

WB

Human,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

5913

https://www.uniprot.org/uniprot/5913

Q13702

https://www.uniprot.org/uniprotkb/Q13702/entry

19400

https://www.uniprot.org/uniprot/19400

P12672

https://www.uniprot.org/uniprotkb/P12672

Synthesized peptide derived from human RAPSN AA range: 341-391

This antibody detects endogenous levels of RAPSN at Human/Mouse

WB 1:500-2000;IHC-p 1:50-300

45kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasmic surface of postsynaptic membranes.

disease:Defects in RAPSN are a cause of congenital myasthenic syndrome type 1d (CMS1D) [MIM:608931]; also called congenital myasthenic syndrome associated with acetylcholine receptor deficiency. 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). CMS1D 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.,disease: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.,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: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.,similarity:Belongs to the RAPsyn family.,similarity:Contains 1 RING-type zinc finger.,similarity:Contains 7 TPR repeats.,subcellular location:Cytoplasmic surface of postsynaptic membranes.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.