Anti-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.

PRRT2 antibody was raised against a 18 amino acid peptide near the center of human PRRT2 . The immunogen is located within amino acids 180 - 230 of PRRT2.

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca (2+) -sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.