RAD21是抑癌基因，编码蛋白是cohesin复合物的一个亚基，其参与DNA修复和染色体分离。 cohesin环由两个大的结构蛋白SMC1a和SMC3组成，该环通过α-kleisin亚基与RAD21衔接蛋白的结合而打开和关闭。cohesin复合物还起到维持染色质环结构或DNA的3D排列的作用，其允许基因表达的调节控制。RAD21被认为是一种双链断裂DNA修复蛋白。RAD21的胚系突变与粘连病变患者的一系列发育缺陷的有关；另外，RAD21的胚系突变与患乳腺癌的风险增加有关。已在患有急性髓性白血病和骨髓增生异常综合征的患者中鉴定出体细胞RAD21突变。RAD21突变主要是错义突变并且预计会导致功能活性丧失。

RAD21 is a subunit of the cohesin complex that aligns and stabilizes sister chromatids during metaphase. The cohesin ring is comprised of two large structural proteins, SMC1a and SMC3, and this ring opens and closes through the binding of alpha-kleisin subunits to the RAD21 adapter protein. The cohesin complex also functions to maintain chromatin looping structures, or 3D arrangements of DNA that allow for regulatory control of gene expression. RAD21 has been implicated as a double-stranded break DNA repair protein. Germline mutations in RAD21 have been identified in patients with cohesinopathies leading to a spectrum of developmental defects Somatic RAD21 mutations have been identified in patients with acute myeloid leukemia and myelodysplastic syndromes. RAD21 mutations are predominantly missense and predicted to lead to loss of function activity, however, it remains unclear if RAD21 mutations lead to aneuploidy as predicted.

GeneCards OncoKB My Cancer Genome