Our ATM/TP53 FISH probe is designed to detect ATM and TP53 deletions. The probe comes labeled in green and orange, but can be customized to meet your needs.
Gene Background: Chronic lymphocytic leukemia (CLL), the most common leukemia in the Western world, is characterized by a heterogeneous genetic profile, including aberrations in TP53 and ATM.1 TP53, a well-established tumor suppressor, is mutated in about 15% of CLL patients.2 ATM encodes a kinase that’s been shown to activate TP53’s encoded protein via two mechanisms: phosphorylation of the protein at serine 15 and dephosphorylation at serine 376.3 Therefore, ATM loss is a potential cause of TP53 dysfunction in CLL. Reduced levels of ATM’s encoded protein are found in 30-40% of CLL patients.2 Beyond CLL, TP53 abnormalities have also been detected in a number of hematological malignancies, including acute myeloid leukemia, acute lymphoblastic leukemia, and myelodysplastic syndromes, while ATM has been found deregulated in pediatric leukemias, lymphomas, and breast cancers.3,4
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
Gene Summary
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. [provided by RefSeq, Aug 2010]
Gene Details
Gene Symbol: ATM
Gene Name: ATM Serine/threonine Kinase
Chromosome: CHR11: 108093558-108239826
Locus: 11q22.3