MLL4

MLL4 (also known as KMT2D) is a gene that encodes a histone methyltransferase involved in the regulation of gene expression. This gene is located on the long arm of chromosome 12 (12q13.12) and is associated with several diseases, including Kabuki syndrome and certain types of cancer.

Function

The MLL4 gene encodes a protein that is part of the SET domain containing family of histone methyltransferases. These enzymes are responsible for the addition of methyl groups to histone proteins, which can alter the structure of chromatin and influence gene expression. Specifically, MLL4 is known to methylate histone H3 on lysine 4 (H3K4), a mark associated with active gene transcription.

Clinical significance

Mutations in the MLL4 gene have been linked to Kabuki syndrome, a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and other health problems. In addition, alterations in MLL4 have been implicated in various types of cancer, including leukemia, lymphoma, and lung cancer.

Research

Research into the function and regulation of MLL4 is ongoing. Understanding the role of this gene in normal cellular processes and disease states may lead to new therapeutic strategies for conditions associated with MLL4 dysfunction.

See also

• Histone methyltransferase
• Kabuki syndrome
• Gene expression
• Chromatin
• Methylation