ATM FISH Probe

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

ATM

Gene Alias

AT1, ATA, ATC, ATD, ATDC, ATE, DKFZp781A0353, MGC74674, TEL1, TELO1

Gene Description

ataxia telangiectasia mutated

Omim ID

Gene Ontology

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq

Other Designations

AT mutated|TEL1, telomere maintenance 1, homolog|ataxia telangiectasia mutated (includes complementation groups A, C and D)|ataxia telangiectasia mutated protein|human phosphatidylinositol 3-kinase homolog|serine-protein kinase ATM