Description
Key facts
Cell type:HEK-293,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,
Mutation description:Knockout achieved by CRISPR/Cas9 X = 1 bp insertion Frameshift: 99%
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-ATP13A2, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation 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.
ATP13A2 also known as PARK9 is a lysosomal P5-type ATPase with a molecular mass of approximately 163 kDa. It functions primarily as a cation transporter involved in the transport of divalent metal ions such as manganese and zinc across lysosomal membranes. The ATP13A2 protein is expressed in various tissues with high levels noted in the brain particularly within the neurons of the substantia nigra. The presence of ATP13A2 is also confirmed in kidney tissues and immune cells indicating a wide tissue distribution.
Biological function summary
ATP13A2 plays a significant role in maintaining metal ion homeostasis inside cells. It is an essential component of the complex regulatory system that ensures proper lysosomal function. The protein impacts autophagy by influencing lysosomal biogenesis and integrity. Furthermore its function in metal ion transport and detoxification suggests a protective role for neurons against metal-induced oxidative stress.
Pathways
ATP13A2 is an important participant in the lysosomal degradation pathway and the autophagy-lysosome pathway. It interacts with proteins such as alpha-synuclein known for its role in neurodegenerative diseases and cellular stress responses. In the context of metal ion homeostasis ATP13A2 operates alongside other transporters and enzymes to maintain cellular ion balance and prevent toxicity.
ATP13A2 mutations associate strongly with neurodegenerative conditions like Parkinson's disease (PD) and Kufor-Rakeb syndrome a rare juvenile-onset parkinsonism. Disruption in ATP13A2 activity leads to cellular dysfunction and neurodegeneration due to impaired lysosomal degradation and metal ion imbalance. It is connected to PARK7 (DJ-1) another protein linked to the pathogenesis of PD suggesting shared pathways or compensatory mechanisms between these proteins in neuronal survival and pathology.
