Literature associating SYNJ1 and early infantile epileptic encephalopathy 53
Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity); Belongs to the synaptojanin family.
Synonyms: SYNJ1, SYNJ1p, hSYNJ1, B4DIP0, C9J1Z6 ...