SYNJ1 (Synaptojanin 1) encodes a poly-phosphoionositide phosphatase consisting of two inositol 5-phosphatase domains and a COOH-terminal proline rich region. SYNJ1 is highly expressed in the presynaptic nerve terminals of the adult brain.
Synonyms: Anti-Synaptic inositol-1,4,5-trisphosphate 5- phosphatase 1; Anti-Synaptojanin-1
Storage: -20C
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Biochem Physiol Actions: SYNJ1 (Synaptojanin 1) is involved in the clathrin-coated pit (CCP) dynamics. It is responsible for the regulation of uncoating and synaptic vesicle trafficking during clathrin-mediated endocytosis. During recruitment to the CCP, its proline rich domain binds to the SH3 domain-containing endocytic factors, such as endophilin and amphiphysin. Homozygous nonsense alteration of SYNJ1 causes epilepsy and defects in synaptic vesicle recycling in the tau pathology. Mutation in this gene also causes early-onset atypical parkinsonism (PARK20) disease.
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