Abcam, ab288709, Human RPH3A knockout SK-N-FI cell line

Size: 1000000Cells / vial / 2 x 1000000Cells / vial
RPH3A KO cell line available to order. KO validated by. Free of charge wild type control available. 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:SK-N-FI,
Species or organism:Human,
Tissue:Bone marrow,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Disease:Neuroblastoma

Product details:
Although we aim to provide customers with a homozygous clone, feasibility will be dependent on the biology of the protein. Should only heterozygous edits be achieved, you will be notified of the outcome and be asked to confirm whether the cell line is acceptable. All clones will be accompanied with DNA sequencing data, and the mutation description.
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages

Properties and Storage Information:
Gene name-RPH3A, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, 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.
Rabphilin 3A also known as RPH3A plays a role in exocytosis and synaptic transmission. This protein has a molecular weight of approximately 85 kDa. It contains domains that help in the interaction with small GTPases and phospholipids in the membrane. Rabphilin 3A is expressed in brain tissues particularly in neurons. It associates with synaptic vesicle membranes which is essential for neurotransmitter release at synapses.
Biological function summary
Rabphilin 3A modulates synaptic vesicle docking and fusion in the neuron. It acts as an effector of the small GTPase Rab3 forming a complex that links synaptic vesicles to presynaptic membranes. This interaction influences the dynamics of the membrane and ensures proper vesicle cycling during neurotransmission. Rabphilin 3A also interacts with calcium ions which regulate its affinity for other proteins involved in the synaptic machinery.
Pathways
Rabphilin 3A participates in the regulation of the neurotransmitter release pathway and synaptic vesicle cycle. It interacts with proteins like Rab3A to facilitate vesicle docking and membrane fusion important for synaptic vesicle exocytosis. The cAMP-dependent signaling pathway also involves Rabphilin 3A guiding the processes associated with synapse communication and plasticity.
Rabphilin 3A appears to play a role in neurological disorders like epilepsy and neurodegenerative diseases. Its dysfunction is connected to altered synaptic transmission a factor in epilepsy pathophysiology. Rab3A a protein closely associated with Rabphilin 3A also impacts synaptic activity and their interplay may contribute to understanding diseases affecting synaptic function. Changes in Rabphilin 3A expression or function can lead to imbalances in neurotransmitter release highlighting its potential link to neurodegenerative conditions like Alzheimer's disease.