Aliases for SYNJ1 Gene
External Ids for SYNJ1 Gene
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]
GeneCards Summary for SYNJ1 Gene
SYNJ1 (Synaptojanin 1) is a Protein Coding gene. Diseases associated with SYNJ1 include atypical juvenile parkinsonism and parkinson disease 20, early-onset. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include RNA binding and inositol-polyphosphate 5-phosphatase activity. An important paralog of this gene is SYNJ2.
UniProtKB/Swiss-Prot for SYNJ1 Gene
Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis