KMT2C

KMT2C (also known as MLL3) is a gene that encodes a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family. This gene is located on the long arm of chromosome 7, specifically at 7q36.1. The protein encoded by this gene is a histone methyltransferase that plays a role in transcriptional coactivation. It is involved in chromosome-wide gene expression and is essential for the development and maintenance of normal physiological functions.

Function

The KMT2C gene is part of the histone methyltransferase family, which is responsible for the addition of methyl groups to the histone proteins that DNA wraps around. This methylation process is a key part of epigenetic regulation, which controls when and how genes are activated. KMT2C specifically targets histone H3, adding a methyl group to the lysine 4 residue (H3K4). This modification is associated with gene activation.

Clinical Significance

Mutations in the KMT2C gene have been associated with several types of cancer, including colorectal cancer, gastric cancer, and endometrial cancer. These mutations often result in a loss of function of the KMT2C protein, leading to abnormal gene activation and increased cell growth and division. In addition, KMT2C mutations have been identified in individuals with Kabuki syndrome, a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and other health problems.

Research

Research into the KMT2C gene and its associated protein is ongoing. Understanding the role of this gene in normal cellular function and in disease states may lead to new therapeutic strategies for treating cancers and other conditions associated with KMT2C mutations.

See Also

• Histone methyltransferase
• Epigenetics
• Kabuki syndrome