Atm - ataxia telangiectasia mutated Gene

中文名称：共济失调毛细血管扩张突变

种属: Mus musculus

同用名: C030026E19Rik

关于 Atm

功能概要

该基因编码的蛋白可启动蛋白激酶活性。参与多个过程，包括细胞对视黄酸的反应； TORC1 信号的负调控；和大分子生物合成过程的正调控。作用于多个过程的上游或内部，包括 DNA 重组；动物器官发育；和减数分裂核分裂。位于细胞质中；微管细胞骨架；和核。以多种结构表达，包括消化系统；泌尿生殖系统；淋巴系统；神经系统;和感觉器官。用于研究共济失调性毛细血管扩张症。该基因的人类直系同源物与多种疾病有关，包括结直肠癌；子宫内膜癌;肺癌（多发性）；神经退行性疾病（多种）；和老年性白内障。与人类 ATM（ATM 丝氨酸/苏氨酸激酶）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including DNA recombination; animal organ development; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including colorectal cancer; endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]