Gene: SYNJ1

Alternate names for this Gene: DEE53|EIEE53|INPP5G|PARK20

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: synaptojanin 1

Type of Gene: protein-coding

rs147991290 in SYNJ1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs1569086116 in SYNJ1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 PMID 25316601 2015 Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

PMID 27435091 2016 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

rs1555907463 in SYNJ1 gene and PARKINSON DISEASE 20, EARLY-ONSET PMID 27869329 2017 Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

PMID 25316601 2015 Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

PMID 27435091 2016 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

PMID 23804577 2013 Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

PMID 23804563 2013 The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.