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The official name of this gene is “SP110 nuclear body protein.”
SP110 is the gene's official symbol. The SP110 gene is also known by other names, listed below.
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).
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.
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 the SP110 gene 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.
Cytogenetic Location: 2q37.1
Molecular Location on chromosome 2: base pairs 231,033,633 to 231,090,443
The SP110 gene is located on the long (q) arm of chromosome 2 at position 37.1.
More precisely, the SP110 gene is located from base pair 231,033,633 to base pair 231,090,443 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SP110 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
apoptosis ; bacteria ; cell ; cell division ; fibrosis ; gene ; hepatic ; immune response ; immune system ; immunodeficiency ; infection ; leukemia ; liver failure ; mycobacterium ; phosphoprotein ; protein ; pulmonary ; receptor ; risk factors ; tissue ; tuberculosis ; veno-occlusive disease
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.