該基因屬于boris+ctcf基因家族,編碼一個具有11個高度保守的鋅指結構域的轉錄調節蛋白。這種核蛋白能夠利用zf結構域的不同組合來結合不同的dna靶序列和蛋白質。根據所述位點的上下文,所述蛋白質可結合包含組蛋白乙酰轉移酶(hat)的復合物并作為轉錄激活劑發揮作用,或結合包含組蛋白脫乙酰基酶(hdac)的復合物并作為轉錄抑制因子發揮作用。如果蛋白質與轉錄絕緣體元件結合,它可以阻斷增強子和上游啟動子之間的通訊,從而調節印跡表達。這種基因突變與浸潤性乳腺癌、前列腺癌和腎母細胞瘤有關。另外,已經發現該基因編碼不同亞型的剪接轉錄變體。[由RefSeq提供,2010年7月]
This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]