Anti-PRRT2 antibody produced in rabbit

Proline-rich transmembrane protein 2 (PRRT2) has two transmembrane domains. PRRT2 is highly expressed in nervous system and spinal cord and less expressed in heart, lung, kidney and skin. In human chromosome, the gene PRRT2 is localized on 16p11.2.

Prrt2 is found in the pre- and post- synaptic membranes and is associated with Synaptosomal nerve-associated protein 25 (SNAP25). Prrt2 promotes neurotransmitter release and glutamine signalling. Mutations in PRRT2 impairs glutamine release. Mutations in PRRT2 leads to delay in neuronal migration and synaptic loss. Truncating mutations in PRRT2 causes paroxysmal kinesigenic dyskinesia. Mutations in PRRT2 also causes epilepsy and mental retardation. Mutation of PRRT2 in children causes infantile convulsions and choreoathetosis (ICCA) syndrome and in adolescent leads to onset-movement disorder.

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Supplied at 1 mg/mL in PBS with 0.02% sodium azide.

The action of this antibody can be blocked using blocking peptide SBP3500863.

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