" /> RAPSN wt Allele - CISMeF





Preferred Label : RAPSN wt Allele;

NCIt synonyms : RNF205; Receptor-Associated Protein of the Synapse, 43kD Gene; Receptor-Associated Protein of the Synapse, 43-kD Gene; Receptor Associated Protein of the Synapse wt Allele; RAPSYN; FADS2; CMS11; FADS;

NCIt definition : Human RAPSN wild-type allele is located in the vicinity of 11p11.2 and is approximately 11 kb in length. This allele, which encodes 43 kDa receptor-associated protein of the synapse protein, is involved in nicotinic acetylcholine receptor clustering. Mutations in the gene are associated with fetal akinesia deformation sequence 2 and congenital myasthenic syndrome with acetylcholine receptor deficiency 11.;

NCI Metathesaurus CUI : CL1643450;

GenBank Accession Number : NM_005055;

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31/07/2025


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