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Description

Methyl-CpG-binding domain protein 6 (UniProt: Q96DN6, also known as Methyl-CpG-binding protein MBD6) is encoded by the MBD6 (also known as KIAA1887) gene (Gene ID: 114785) in human. The methyl-CpG-binding domain (MBD) proteins are primary candidates for the readout of DNA methylation. MBD proteins require a functional MBD domain and methyl-CpGs, although some MBD proteins can also bind unmethylated DNA. MBD proteins are involved in transcriptional repression by histone modification, nucleosome remodeling or chromatin organization. MBD6 is highly expressed in testes. Its MBD domain is localized in the N-terminal region (aa 11-81) and it also contains proline-rich domains. MBD6 binds to heterochromatin, but does not interact with either methylated or unmethylated DNA. MBD6 is reported to interact directly with the human polycomb deubiquitinase complex, PR-DUB, which catalyzes deubiquitination of H2AK119. Mutations in MBD6 that lead to R883W alteration are reported to cause autism. (Ref.: Cukier, HN., et al. (2012). Autism Res. 5(6), 385-397, Du, Q., et al. (2015). Epigenomics 7(6), 1051-1073).