Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). 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). {By
SimilarityUniProtKB:O18964, By
SimilarityUniProtKB:Q62910, Experimental EvidencePubMed:27435091}.
Parkinson disease 20, early-onset (PARK20) [MIM:615530]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. {Experimental EvidencePubMed:23804563, Experimental EvidencePubMed:23804577, Experimental EvidencePubMed:27496670}. Note=The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 53 (DEE53) [MIM:617389]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE53 inheritance is autosomal recessive. {Experimental EvidencePubMed:27435091}. Note=The disease is caused by variants affecting the gene represented in this entry.
Protein kinase C and casein kinase substrate in neurons protein 1 (Dynamin proline-rich domain-interacting protein) (Dynamin PRD-interacting protein) (Synaptic, dynamin-associated protein I) (Syndapin-1) (Syndapin-I) (SdpI)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory