KMT2E

KMT2E (Lysine Methyltransferase 2E) is a gene that encodes a protein involved in the regulation of gene expression through histone modification. The KMT2E protein is part of the SET domain family of lysine methyltransferases, which are enzymes that methylate the lysine residues of histone proteins.

Function

KMT2E is known to play a role in the epigenetic regulation of gene expression. It specifically methylates lysine residues on histone H3, which can lead to either activation or repression of transcription depending on the context. This modification is crucial for the regulation of chromatin structure and function.

Clinical Significance

Mutations in the KMT2E gene have been associated with various neurological disorders and cancers. Research has shown that alterations in the function of KMT2E can lead to dysregulation of gene expression, contributing to the development of these conditions.

Research

Studies are ongoing to better understand the specific mechanisms by which KMT2E influences gene expression and its role in disease. Researchers are also exploring potential therapeutic targets within the pathways regulated by KMT2E.

See Also

• Histone methylation
• Epigenetics
• Gene regulation

External Links

• [KMT2E at GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=KMT2E)
• [KMT2E at NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/)