Description
Product Characteristics: PRRT2 Antibody: 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.
Target Information: This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]