KDM5C

KDM5C (also known as Lysine Demethylase 5C) is a gene that encodes a protein involved in chromatin remodeling. It is located on the X chromosome and is associated with several neurodevelopmental disorders, including X-linked intellectual disability (XLID).

Function

The KDM5C gene encodes a member of the lysine demethylase family of proteins. These proteins are involved in the removal of methyl groups from lysine residues on histones, which are proteins that help package DNA into a compact, efficient form inside the nucleus of a cell. By modifying the methylation status of histones, KDM5C plays a crucial role in the regulation of gene expression.

Clinical significance

Mutations in the KDM5C gene have been associated with a number of neurodevelopmental disorders. Most notably, it has been linked to a form of X-linked intellectual disability known as Claes-Jensen syndrome. This condition is characterized by moderate to severe intellectual disability, facial dysmorphism, and other physical abnormalities.

In addition, KDM5C mutations have been implicated in cases of autism, schizophrenia, and bipolar disorder. Research into the role of KDM5C in these conditions is ongoing.

Research

KDM5C is a subject of intense research interest due to its role in neurodevelopmental disorders. Studies are ongoing to better understand the function of KDM5C and how mutations in this gene lead to disease. This research may eventually lead to new treatments for conditions associated with KDM5C mutations.

See also

• Lysine demethylase
• X-linked intellectual disability
• Claes-Jensen syndrome

References

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