PRRT2 Antibody – Rabbit Polyclonal

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]

PRRT2: Defects in PRRT2 are the cause of episodic kinesigenic dyskinesia type 1 (EKD1). An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681). Defects in PRRT2 are the cause of convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA). A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Defects in PRRT2 are the cause of seizures, benign familial infantile type 2 (BFIS2). An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Belongs to the CD225/Dispanin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: integral to membrane; plasma membrane; synapse; cell junction

Biological Process: neuromuscular process controlling posture; response to biotic stimulus

Disease: Episodic Kinesigenic Dyskinesia 1