MBD6

MBD6, methyl-CpG binding domain protein 6, alias KIAA1887, is primarily involved in the epigenetic regulation of DNA methylation.
MBD6 is heterochromatin-bound and recognizes and binds 5-methylcytosine (m5C)-containing RNAs, which in turn affects chromatin status and gene expression. In vitro results suggest that MBD6 does not directly interact with methylated or unmethylated DNA.
MBD6 is associated with autism spectrum disorders and its mutation or abnormal expression may contribute to the development of certain disorders such as Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma (MEDNIK) syndrome. Syndrome). Loss or enhancement of MBD6 function may affect gene silencing and chromatin structure, which in turn affects cellular function and disease development.

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Recombinant Human Methyl-CpG-binding domain protein 6 (MBD6), partial