ATM 11:108093211-108239829

Forward strand gene: ATM serine/threonine kinase

Formerly known as: ATA, ATC, ATD, ATDC

Also known as: TELO1, TEL1, ENSG00000149311

Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. … Source: UniProt

DECIPHER holds 7 sequence variants in this gene, in 7 open-access patients