MBD4

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

本基因编码的蛋白质属于一类核蛋白家族，该家族成员通过甲基-CpG结合域（MBD）的共存而相互关联。这些蛋白质能够特异性地结合甲基化的DNA，其中一些成员还能够抑制甲基化基因启动子上的转录。该蛋白质在其N端含有一个MBD域，该域在结合甲基化DNA和蛋白质相互作用中发挥功能，同时在C端含有一个不匹配特异性糖基化酶域，该域参与DNA修复。对于该基因，已经观察到存在可变剪接的转录本变体，它们编码多种异构体。[由RefSeq提供，2013年1月]