Protein Name | proline rich transmembrane protein 2 |
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Organism | Homo sapiens |
Gene ID | 112476 |
Gene Symbol | PRRT2 |
UniProt | Q7Z6L0 (PRRT2_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
1000
Total Number of Articles : 1613 |
Description |
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] |
synonyms |
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Properties | |