该基因编码的蛋白质是一个核蛋白家族的成员,与甲基CpG结合域(MBD)的存在有关这些蛋白质能够与甲基化dna特异性结合,一些成员还可以抑制甲基化基因启动子的转录。该蛋白在n端包含一个mbd结构域,其功能包括与甲基化dna结合和蛋白质相互作用,以及一个参与dna修复的c端错配特异性糖基化酶结构域。另外,已经观察到该基因编码多个亚型的剪接转录变体[由RefSeq提供,2013年1月]
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]

基因名:MBD4
别名:MED1
基因ID:8930
Chromosome:
(GRCh37)
3 Start: 129149787 End: 129159022 Strand: 
信号通路:  
MBD4 基因突变与药物

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