Abcam, ab266005, Human SYNJ1 (Synaptojanin) knockout HeLa cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
SYNJ1 KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 3. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 3,
Disease:Adenocarcinoma

Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages

Properties and Storage Information:
Gene name-SYNJ1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Synaptojanin also known as SYNJ is a phosphoinositide phosphatase enzyme with a typical molecular mass of around 150 kDa. It functions mechanically by dephosphorylating phosphatidylinositol phosphates at various positions playing an important role in membrane curvature and endocytosis. Its expression is remarkably high in the brain especially in nerve terminals where it assists in synaptic vesicle recycling and neurotransmitter release. Synaptojanin expression also occurs in other tissues but at lower levels.
Biological function summary
Synaptojanin modulates synaptic function and plasticity through its role in lipid metabolism. It is part of a complex with endocytic proteins such as endophilin and dynamin which facilitates the uncoating of clathrin-coated vesicles following endocytosis. This complex action is important for maintaining synaptic efficiency and adaptability especially during high rates of synaptic activity. The disruption of synaptojanin's role affects the proper balance of phospholipids impacting neural communication and function.
Pathways
Synaptojanin plays a significant role in the phosphoinositide signaling and endocytic pathways. It works closely with other proteins like phosphatidylinositol-45-bisphosphate (PIP2) and adaptor protein 2 regulating membrane trafficking and the recycling of synaptic vesicles. These pathways are central to maintaining cellular homeostasis and ensuring neurotransmitter release and recycling occur effectively allowing cells to respond swiftly to dynamic signaling requirements.
Researchers link synaptojanin to neurological conditions like Parkinson's disease and Charcot-Marie-Tooth disease. Mutations in synaptojanin or its interaction partners such as endophilin have been shown to disrupt synaptic vesicle reformation leading to neurodegeneration. Studies suggest that variants in synaptojanin can result in synaptic dysfunction contributing to the pathophysiology of these disorders. Understanding synaptojanin's function helps in the development of therapeutic strategies for related neurodegenerative diseases.