Synaptojanin 1

Synaptojanin 1 is a protein that in humans is encoded by the SYNJ1 gene. It is a key component in the process of synaptic vesicle recycling, which is crucial for maintaining active synapses.

Function

Synaptojanin 1 is a phosphatase enzyme that dephosphorylates inositol phospholipids, which are important signaling molecules in the cell. It has two phosphatase domains: a Sac1 domain and a 5-phosphatase domain. The Sac1 domain dephosphorylates PI(4)P and PI(4,5)P2, while the 5-phosphatase domain dephosphorylates PI(4,5)P2.

The dephosphorylation of PI(4,5)P2 is a critical step in the process of synaptic vesicle recycling. This process is necessary for the reformation of synaptic vesicles after they have released their neurotransmitters into the synaptic cleft.

Clinical significance

Mutations in the SYNJ1 gene have been associated with early-onset Parkinson's disease and a form of epilepsy known as autosomal recessive juvenile Parkinson's disease.

See also

• Synaptojanin
• Phosphatase
• Synaptic vesicle

External links

• GeneCards - SYNJ1

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