DISEASES

Disease-gene associations mined from literature

Literature associating MBD1 and leprosy

MBD1 [ENSP00000468785]

Protein containing methyl-CpG-binding domain 1; Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters; Methyl-CpG binding domain containing

Synonyms:  MBD1,  MBD1p,  hMBD1,  B4DI41,  K7EIN3 ...

Linkouts:  STRING  Pharos  UniProt