Background |
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. |
Manufacturers Research Area |
Epigenetics Nuclear Signaling, Epigenetic writers and erasers of core Histones, DNA Damage Repair, Protein phosphorylation, Cancer, Tumor suppressors, Signal Transduction, Kinase, Serine threonine kinases, ATM Signaling Pathway, Cell Biology Developmental Biology, Apoptosis, Mitochondrial Control of Apoptosis, Cell Cycle, Cell Cycle Control-G1 S Checkpoint, Cell Cycle Control-G2 M DNA Damage Checkpoint, Immunology Inflammation, NF-kB Signaling Pathway |