Human receptor-associated protein of the synapse ELISA Kit | RAPSN elisa kit

Human 43 kDa receptor-associated protein of the synapse, RAPSN ELISA Kit

Cat. Num. AAA9319039

• Gene Names: RAPSN; RAPSYN; RNF205
• Reactivity: Human
• Synonyms: receptor-associated protein of the synapse; Human 43 kDa receptor-associated protein of the synapse; RAPSN ELISA Kit; Human 43 kDa receptor-associated protein of the synapse (RAPSN) ELISA kit; CMS1D; CMS1E; MGC3597; RNF205; 43 kD receptor-associated protein of the synapse; 43 kda postsynaptic protein; acetylcholine receptor-associated 43 kda protein; rapsyn; receptor-associated protein of the; RAPSN elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 15619013
• NCBI GeneID: 5913
• NCBI Accession #: NP_005046.2
• NCBI GenBank Nucleotide #: NM_005055.4
• UniProt Accession #: Q13702; Q8TDF3; Q9BTD9
• Molecular Weight: 46,328 Da
• NCBI Official Full Name: 43 kDa receptor-associated protein of the synapse isoform 1
• NCBI Official Synonym Full Names: receptor-associated protein of the synapse
• NCBI Official Symbol: RAPSN
• NCBI Official Synonym Symbols: RAPSYN; RNF205
• NCBI Protein Information: 43 kDa receptor-associated protein of the synapse; RING finger protein 205; 43 kda postsynaptic protein; acetylcholine receptor-associated 43 kda protein
• UniProt Protein Name: 43 kDa receptor-associated protein of the synapse
• Protein Family: 43 kDa receptor-associated protein of the synapse
• UniProt Gene Name: RAPSN
• UniProt Synonym Gene Names: RNF205; RAPsyn
• UniProt Entry Name: RAPSN_HUMAN

NCBI Description

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]

Uniprot Description

RAPSN: 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.

Protein type: Cell adhesion; Ubiquitin conjugating system; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 11p11.2

Cellular Component: Golgi apparatus; centrosome; postsynaptic membrane; cytoplasm; plasma membrane; neuromuscular junction; cell junction

Molecular Function: ionotropic glutamate receptor binding; zinc ion binding; protein anchor; acetylcholine receptor binding

Biological Process: synaptic transmission; positive regulation of neuron apoptosis; synaptic transmission, cholinergic

Disease: Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency; Fetal Akinesia Deformation Sequence