SP110

The SP110 gene provides instructions for making a protein called SP110 nuclear body protein, which is a component of cellular structures called nuclear bodies. Nuclear bodies are located within the nuclei of cells, where they help control the activity of certain genes. Nuclear bodies are also involved in the regulation of cell division, the self-destruction of cells that are damaged or no longer needed (apoptosis), and the normal function of the immune system.

SP110 nuclear body protein is active primarily in immune system cells called leukocytes and in the spleen. It likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

hepatic veno-occlusive disease with immunodeficiency - caused by mutations in the SP110 gene

At least five mutations in the SP110 gene have been found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). Each of these mutations leads to the production of a nonfunctional version of SP110 nuclear body protein. A lack of functional protein impairs the immune system's ability to fight off foreign invaders, allowing recurrent and persistent infections to develop. It is unclear how the loss of SP110 nuclear body protein disrupts blood flow in the liver, leading to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

other disorders - associated with the SP110 gene

Several common variations (polymorphisms) in the SP110 gene have been studied as risk factors for lung (pulmonary) tuberculosis. This disease is a contagious bacterial infection. At least one study has found that certain variations in SP110 may influence the risk of infection with the bacteria that cause pulmonary tuberculosis. However, several other studies have not found such an association. SP110 variations are probably not a major genetic risk factor for this disease.