| Health / Medical Topics |
PRRT2 wt Allele
Human PRRT2 wild-type allele is located in the vicinity of 16p11.2 and is approximately 4 kb in length. This allele, which encodes proline-rich transmembrane protein 2, may be involved in the development of the brain and spinal cord. Mutation of the gene is associated with both episodic kinesigenic dyskinesia-1 and infantile convulsion and choreoathetosis syndrome. (NCI Thesaurus)
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