Gene Symbol | SYNJ1 |
Entrez Gene ID | 8867 |
Full Name | synaptojanin 1 |
Synonyms | EIEE53,INPP5G,PARK20 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. |
Disorder MIM: | |
Disorder Html: | Parkinson disease 20, early-onset, 615530 (3); Epileptic encephalopathy, early infantile, 53, 617389 (3) |