Gene Symbol | PRRT2 |
Entrez Gene ID | 112476 |
Full Name | proline rich transmembrane protein 2 |
Synonyms | BFIC2,BFIS2,DSPB3,DYT10,EKD1,FICCA,ICCA,IFITMD1,PKC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Episodic kinesigenic dyskinesia 1, 128200 (3); Seizures, benign familial infantile, 2, 605751 (3); Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) |