Synaptojanin is a phosphatidylinositol phosphatase involved in clathrin-mediated endocytosis of synaptic vesicles. Synaptojanin 1 has two alternatively spliced isoforms; one that is ~ 145 kDA and is exclusively expressed in neurons, and the other ~ 170 kDa which is expressed in non-neuronal, peripheral tissues (Ramjaun AR & McPherson PS, 1996). The gene which encodes Synaptojanin 1, SYNJ1, has been mapped to chromosome 21 thus making it a candidate for involvement in Down's syndrome (DS). It has recently been demonstrated that Ts65Dn mice (the most commonly used model of DS) have altered phosphatidylinositol-4,5-bisphosphate metabolism. This defect is rescued by restoring SYNJ1 to disomy in the Ts65Dn mice.
Pathway
Inositol phosphate metabolism; Metabolism; Metabolism of lipids and lipoproteins; PI Metabolism; Phosphatidylinositol signaling system; Phospholipid metabolism; Synthesis of IP2, IP, and Ins in the cytosol; Synthesis of IP3 and IP4 in the cytosol.
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