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FLASH GENE
Symbol SYNJ1 contributors: mct/npt - updated : 04-01-2015
HGNC name synaptojanin 1
HGNC id 11503
ASSOCIATED DISORDERS
corresponding disease(s) PARK20 , EIEE53
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
may affect a variety of synaptic processes, particularly in brain regions normally exhibiting the highest levels of expression, such as the hippocampus
constitutional     --over  
contribution of SYNJ1 overexpression to the endosomal changes observed in Down syndrome
Susceptibility
Variant & Polymorphism
Candidate gene for bipolar disorder
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyneurodegenerativealzheimer
SYNJ1 reduction ameliorates Alzheimer disease -associated behavioral and synaptic deficits, providing evidence that SYNJ1 and, more generally, phosphoinositide metabolism may be promising therapeutic targets
mental retardationtrisomy 
attractive new target for rescuing endocytic dysfunction and lipid metabolism in Down syndrome
neurologyneurodegenerativealzheimer
attractive new target for rescuing endocytic dysfunction and lipid metabolism in AD
ANIMAL & CELL MODELS
  • Synj1-/- mice display elevated steady-state levels of PIP2 with an accumulation of clathrin-coated vesicles in nerve terminals, and these animals die shortly after birth
  • presence of enlarged endosomes in the cortex of transgenic mice overexpressing Synj1