Protein Name proline rich transmembrane protein 2
Organism Homo sapiens
Gene ID 112476
Gene Symbol


UniProt Q7Z6L0 (PRRT2_HUMAN)
Relationships Total Number of functionally related compound(s) : 1000
Total Number of Articles : 1613

proline rich transmembrane protein 2

Gene Summary

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]

  • proline-rich transmembrane protein 2
  • Benign familial infantile convulsions-2
  • Paroxysmal kinesigenic dyskinesia
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