Medical Knowledge Cockpit lymphoma, mantle cell

ATM

• Recruitment of ATM protein to double strand DNA irradiated with ionizing radiation
• Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways
• Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport

 

ATM

Somatic tumors

T-PLL

Tumor types germline

leukaemia, lymphoma, medulloblastoma, glioma

Cancer Syndrom

ataxia-telangiectasia

Translocation partner

Name

ataxia telangiectasia mutated

Chromosome banding

11q22.3

Cancer molecular gen.

Rec

Mutation type

D, Mis, N, F, S

Other syndrome disease

 

ATM

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cyclecheckpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstreamproteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be mastercontrollers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and forgenome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessivedisorder. (provided by RefSeq, Aug 2010)

The protein encoded by this gene belongs to the PI3/PI4-kinase family

This protein is an important cell cyclecheckpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstreamproteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be mastercontrollers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and forgenome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessivedisorder. (provided by RefSeq, Aug 2010)