該基因編碼的蛋白屬于PI3/PI4激酶家族，與ATM（一種在共濟失調性毛細血管擴張癥中突變的基因編碼的蛋白激酶）關系最為密切。這種蛋白和atm與pombe-rad3裂殖酵母菌（schizosaccharomyces pombe rad3）具有相似性，后者是細胞周期停滯和DNA損傷修復反應中所需的細胞周期檢查點基因。這種激酶已被證明磷酸化檢查點激酶CHK1，檢查點蛋白RAD17和RAD9，以及腫瘤抑制蛋白BRCA1。該基因突變與Seckel綜合征有關。該基因的一個選擇性剪接轉錄變體已被報道，但其全長性質尚不清楚。存在利用選擇性polya位點的轉錄變體。
The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist.