Methyl-CpG-binding domain protein 1 (MBD1)

Methyl-CpG-binding domain protein 1 (MBD1) is a nuclear protein that binds specifically to methylated CpG sequences in DNA through its conserved methyl-CpG-binding domain (MBD) and mediates transcriptional repression in association with DNA methylation[1][2][3][4]. MBD1 has several alternatively spliced isoforms containing two to three CXXC-type zinc finger domains, which enable some forms to also bind unmethylated CpGs[1][2][3]. It recruits chromatin-remodeling factors and histone methyltransferases (such as SETDB1), leading to chromatin condensation and gene silencing[2][4]. MBD1 is highly expressed in neural tissues and is implicated in neurogenesis, learning, and memory. Dysregulation or mutation of MBD1 has been associated with neurodevelopmental disorders, including autism spectrum disorder and Rett syndrome, and may play a role in certain cancers[4][5]. There are currently no known drugs that directly target MBD1 as a therapeutic mechanism.

Other names

MBD1CXXC3PCM1CXXC-type zinc finger protein 3protein containing methyl-CpG-binding domain 1protein containing MBD 1methyl-CpG-binding protein MBD1regulator of fibroblast growth factor 2 transcriptionRFT