PRRT2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - DKFZp547J199 - DYT10 - EKD1 - FLJ25513 - IFITMD1 - Interferon Induced Transmembrane Protein Domain Containing 1 Gene - PKC - Proline-Rich Transmembrane Protein 2 wt Allele