The PRRT2 Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to PRRT2. This antibody recognizes Human, Mouse, and Rat antigen. The PRRT2 Antibody has been validated for the following applications: ELISA, Immunofluorescence, Immunohistochemistry, and Western Blot.
Description
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