KMT2E

KMT2E, or KMT2E1, is a protein that in humans is encoded by the KMT2E gene. This gene is located on chromosome 19 and is part of the KMT2 family of genes, which are involved in epigenetic regulation. The KMT2E gene is approximately 100 kilobases in length and contains 13 exons.

The KMT2E protein is a histone methyltransferase, specifically targeting histone H3 at lysine 36 (H3K36). It plays a crucial role in gene regulation by modifying chromatin structure, thereby influencing gene transcription. The KMT2E protein is involved in various biological processes, including cell proliferation, differentiation, and development.

Mutations in the KMT2E gene have been associated with several genetic disorders, including the Smith-Magenis syndrome and the Smith-Magenis syndrome with macrocephaly. These disorders are characterized by intellectual disability, developmental delays, and distinctive facial features.

The KMT2E gene is highly conserved across species, suggesting its importance in fundamental biological processes. Research on KMT2E continues to explore its role in disease and potential therapeutic targets for related conditions.