SYNJ1 gene

synaptojanin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

From UniProt:

Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis.

From NCBI Gene:

  • Parkinson disease 20, early-onset

From UniProt:

Parkinson disease 20, early-onset (PARK20): 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. [MIM:615530]

Cytogenetic Location: 21q22.2, which is the long (q) arm of chromosome 21 at position 22.2

Molecular Location: base pairs 32,628,759 to 32,728,128 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.2, which is the long (q) arm of chromosome 21 at position 22.2
  • INPP5G
  • PARK20