Methyl-cpg binding domain protein 5

Methyl-CpG Binding Domain Protein 5 (MBD5) is a protein that in humans is encoded by the MBD5 gene. It is a member of the methyl-CpG-binding domain (MBD) family and plays a crucial role in DNA methylation, which is a key process in gene regulation.

Function

MBD5 binds specifically to methylated DNA. DNA methylation is an important epigenetic mechanism used by cells to control gene expression. MBD5, like other proteins in the MBD family, can bind to methylated DNA and mediate the effects of DNA methylation.

Clinical significance

Mutations in the MBD5 gene have been associated with mental retardation, autism, and epilepsy. Studies have shown that individuals with mutations in the MBD5 gene often have developmental delay, intellectual disability, and behavioral problems.

Structure

The MBD5 protein contains a methyl-CpG-binding domain, which allows it to bind to methylated DNA. It also contains a transcriptional repression domain, which is involved in the repression of gene expression.

Research

Research into MBD5 is ongoing, with scientists seeking to understand more about its function and the role it plays in disease. This research could potentially lead to new treatments for conditions associated with mutations in the MBD5 gene.

See also

• Methyl-CpG-binding domain
• DNA methylation
• Gene regulation

References

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