DUX4

DUX4 is a gene that encodes a protein in humans. This protein is a transcription factor, which means it helps control the activity of other genes. The DUX4 gene is located on the chromosome 4 in a region known as the D4Z4 repeat sequence.

Function[edit | edit source]

The DUX4 protein is believed to play a role in early embryonic development. However, its exact function is not well understood. Some research suggests that the DUX4 protein may be involved in the development of muscle cells, while other studies indicate that it may play a role in the regulation of gene expression during early development.

Role in Disease[edit | edit source]

Mutations in the DUX4 gene are associated with a rare genetic disorder called Facioscapulohumeral muscular dystrophy (FSHD). This condition is characterized by progressive weakness and loss of skeletal muscles. It is one of the most common forms of muscular dystrophy.

In people with FSHD, the DUX4 gene is abnormally activated in muscle cells. This leads to the production of a toxic DUX4 protein that damages muscle cells and leads to the symptoms of FSHD. The exact mechanism by which the DUX4 protein causes muscle damage is not fully understood.

Research[edit | edit source]

Research is ongoing to better understand the function of the DUX4 gene and its role in disease. This includes studies to identify the specific mechanisms by which the DUX4 protein damages muscle cells in FSHD. Other research is focused on developing therapies that can block the activity of the DUX4 gene or neutralize the toxic effects of the DUX4 protein.