KMT2D

KMT2D (also known as Lysine Methyltransferase 2D) is a gene that encodes a protein involved in transcriptional regulation. Mutations in this gene are associated with Kabuki syndrome, a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and other physical abnormalities.

Function

The KMT2D gene provides instructions for making a protein that plays a critical role in regulating gene activity (gene expression). The KMT2D protein is part of a complex known as the MLL2/MLL3 complex, which modifies histones, the structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a specific chemical group (a methyl group) to histones, the MLL2/MLL3 complex controls the structure of chromosomes and the activity of many genes.

Clinical significance

Mutations in the KMT2D gene are the most common cause of Kabuki syndrome. These mutations are usually new (de novo) and occur in people with no history of the disorder in their family. Most of these mutations lead to the production of a nonfunctional version of the KMT2D protein, which disrupts the normal activity of genes involved in development.

See also

• Kabuki syndrome
• Gene expression
• Histone
• DNA
• Chromosome