ATRX是抑癌基因，编码一种染色质重塑蛋白，编码蛋白含有ATP酶/解旋酶结构域，属于SWI/SNF解旋酶家族的成员，起到染色质调节剂的作用。 ATRX参与端粒复制期间组蛋白H3.3的掺入。ATRX活性的丧失导致异常的DNA甲基化，组蛋白组成和转录，因此也表明ATRX主要作为表观遗传调节剂起作用。ATRX胚系突变导致严重的X连锁精神发育迟滞，通常与α-地中海贫血（ATRX）综合征相关。ATRX功能丧失突变或ATRX表达降低都与肿瘤中端粒（ALT）交替延长强烈相关。体细胞突变与多种人类癌症中的染色体不稳定性和表观遗传重塑相关。具有ATRX突变的患者可能对靶向DNA修复途径的药剂越来越敏感。

ATRX (Chromatin Remodeler), containing an ATPase/helicase domain, is a chromatin regulator that functions as a member of the SWI/SNF helicase family. ATRX is involved in the incorporation of histone H3.3 during telomere replication. Loss of ATRX activity results in aberrant DNA methylation, histone composition and transcription, suggesting that ATRX functions predominantly as an epigenetic regulator. Germline mutations in ATRX result in a severe form of X-linked mental retardation often associated with alpha-thalassemia (ATRX) syndrome. Loss-of-function mutations or reduced ATRX expression is strongly correlated with an alternate lengthening of telomeres (ALT) phenotype in tumors. Somatic mutations have been associated with chromosomal instability and epigenetic remodeling in a variety of human cancers. Patients with ATRX mutations may be increasingly sensitive to agents that target DNA repair pathways.

GeneCards OncoKB My Cancer Genome