Reagents, Molecular Assay, Gene Anomaly, Mutation, ATM
Definition : Molecular assay reagents intended to identify mutations in the ataxia telangiectasia mutated (ATM) gene, located at chromosome 11q22-q23, which encodes for a member of the protein PI3/PI4-kinase family that functions as a regulator of a wide variety of downstream proteins. This protein functions as a signal transducer and cell cycle controller and as a factor in DNA repair. Mutations at this locus have been identified in patients with ataxia telangiectasia (Louis-Bar's syndrome, also called Boder-Sedgwick syndrome) and cancers of the blood-forming tissue (leukemia) and of immune system cells (lymphoma).
Entry Terms : "Louis-Bar Syndrome Gene Mutation Detection Reagents" , "Telangiectasia Gene Mutation Detection Reagents" , "Ataxia-Telangiectasia Gene Mutation Detection Reagents" , "ATM Gene Mutation Detection Reagents"
UMDC code : 24303