Symbol
| SYNJ1
| contributors: mct/npt - updated : 04-01-2015
|
HGNC name
| synaptojanin 1
|
HGNC id
| 11503
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
| --over
|  
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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 | |
Variant & Polymorphism
|
| |
Candidate gene
| for bipolar disorder |
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
neurology | neurodegenerative | alzheimer | |
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 retardation | trisomy | | |
attractive new target for rescuing endocytic dysfunction and lipid metabolism in Down syndrome | neurology | neurodegenerative | alzheimer | |
attractive new target for rescuing endocytic dysfunction and lipid metabolism in AD |
| | |
| 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 |