菜单 基因医生

该基因编码的蛋白属于PI3/PI4激酶家族，与ATM（一种在共济失调性毛细血管扩张症中突变的基因编码的蛋白激酶）关系最为密切。这种蛋白和atm与pombe-rad3裂殖酵母菌（schizosaccharomyces pombe rad3）具有相似性，后者是细胞周期停滞和DNA损伤修复反应中所需的细胞周期检查点基因。这种激酶已被证明磷酸化检查点激酶CHK1，检查点蛋白RAD17和RAD9，以及肿瘤抑制蛋白BRCA1。该基因突变与Seckel综合征有关。该基因的一个选择性剪接转录变体已被报道，但其全长性质尚不清楚。存在利用选择性polya位点的转录变体。
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.