Abcam, ab267337, Human PHKA1 knockout HEK-293T cell line

Size: 1000000Cells / vial / 2 x 1000000Cells / vial
PHKA1 KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 2 bp deletion in exon 14. 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:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 2 bp deletion in exon 14

Product details:
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-PHKA1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
PHKA1 also known as phosphorylase kinase alpha 1 is a regulatory subunit of the phosphorylase kinase enzyme complex with a molecular mass around 138 kDa. This protein is mainly expressed in skeletal muscle and heart tissue. PHKA1 plays an important role in glycogen metabolism by regulating the conversion of phosphorylase b to phosphorylase a which ultimately leads to glycogen breakdown.
Biological function summary
Glycogen metabolism involves PHKA1 as part of the phosphorylase kinase complex. This complex exists in the muscle and liver and includes alpha beta gamma and delta subunits. PHKA1 binds together with these subunits to form a large complex helping to regulate the activity state of the enzyme. The regulation of glycogen phosphorylase is important for maintaining energy supply in cells particularly during physical activity.
Pathways
The activity of PHKA1 impacts glycogenolysis which is a significant metabolic pathway responsible for breaking down glycogen into glucose-1-phosphate. This pathway involves other proteins like glycogen phosphorylase and phosphoprotein phosphatase 1. PHKA1 has interactions within the cascade that ensures proper glycogen breakdown especially during conditions requiring increased energy output.
Mutations in PHKA1 are linked to glycogen storage disease type IXd (GSD IXd) which primarily affects muscle tissue. This condition features exercise intolerance and muscle weakness due to impaired glycogen breakdown. PHKB another homologous phosphorylase kinase subunit can connect to similar energy metabolism disruptions showing a clear association with the disorder pathway alongside PHKA1.