SYNJ1

Description

The SYNJ1 (synaptojanin 1) is a protein-coding gene located on chromosome 21.

Synaptojanin 1 is a protein encoded by the SYNJ1 gene in humans. It functions as a phosphoinositide phosphatase, regulating levels of membrane phosphatidylinositol-4,5-bisphosphate. This enzyme may influence synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been identified for this gene.

Synaptojanin-1 acts as a phosphatase on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate, and phosphatidylinositol (3,4,5)-trisphosphate. It plays a role in clathrin-mediated endocytosis by hydrolyzing PIP2 bound to actin regulatory proteins, leading to actin filament rearrangement downstream of tyrosine kinase and ASH/GRB2.

SYNJ1 is also known as DEE53, EIEE53, INPP5G, PARK20.

Associated Diseases

• Young-onset Parkinson disease
• Non-specific early-onset epileptic encephalopathy
• Atypical juvenile parkinsonism
• Parkinson disease 20, early-onset
• Epileptic encephalopathy, early infantile, 53