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The proline-rich transmembrane protein 2 (PRRT2) contains a proline-rich domain in its N-terminal half and is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. While little is known of the function of this protein, mutations in PRRT2 have been shown to be the causative gene of paroxysmal kinesigenic dyskinesia, which is characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Recent studies have shown that PRRT2 may also be involved in some forms of benign familial infantile epilepsy (BFIE), an autosomal dominant epilepsy syndrome.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dispanin subfamily B member 3; DSPB3; dystonia 10; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1; Proline-rich transmembrane protein 2
基因别名: 1500031I19Rik; AI195361; BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC; PRRT2
UniProt ID: (Human) Q7Z6L0, (Mouse) E9PUL5
Entrez Gene ID: (Human) 112476, (Mouse) 69017