Ataxia Telangiectasia Mutated (ATM)
AT1; ATD; ATA; ATC; ATDC; ATE; TEL1; TELO1
 HGNC 795
 MGI 107202
 OMIM 607585
 RGD 1593265
 UCSC uc001pkb.1
 UniProt Q13315
 USCN 91361
Ataxia Telangiectasia Mutated (ATM)
Ataxia telangiectasia mutated (ATM) is a protein  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.
Research reagent products of Ataxia Telangiectasia Mutated (ATM)
Organism
Protein
Antibody
ELISA Kit
CLIA Kit
Catalog Manual McAb PcAb Catalog Manual Catalog Manual
Homo sapiens (Human)rP91361Hu01n/amA91361Hu22pA91361Hu01 sE91361HuPDFn/an/a
Mus musculus (Mouse)n/an/an/an/a sE91361MuPDFn/an/a
Rattus norvegicus (Rat)n/an/an/an/a n/an/an/an/a