RAPSN wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CMS11 - FADS - FADS2 - RAPSYN - RNF205 - Receptor Associated Protein of the Synapse wt Allele - Receptor-Associated Protein of the Synapse, 43-kD Gene - Receptor-Associated Protein of the Synapse, 43kD Gene