MAGT1 gene
The MAGT1 gene provides instructions for a magnesium transporter protein that is critical for the activation and function of immune system T cells.
Normal Function
The MAGT1 gene provides instructions for making a protein called a magnesium transporter, which moves charged atoms (ions) of magnesium (Mg2+) into certain immune system cells called T cells. T cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders. Specifically, the magnesium transporter produced from the MAGT1 gene is active in CD8+ T cells, which are especially important in controlling viral infections such as the Epstein-Barr virus (EBV). These cells normally take in magnesium when they detect a foreign invader, and the magnesium is involved in activating the T cell's response.
Researchers suggest that magnesium transport may also be involved in the production of helper T cells (CD4+ T cells) in a gland called the thymus. CD4+ T cells direct and assist the functions of the immune system by influencing the activities of other immune system cells.
Health Conditions Related to Genetic Changes
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
At least five MAGT1 gene mutations that cause X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) have been identified. XMEN is a disorder that affects the immune system in males, involving chronic EBV infection and an increased risk of a cancer of immune system cells called lymphoma.
- MAGT1 gene mutations impair the magnesium transporter's function, reducing the amount of magnesium that gets into T cells.
- This magnesium deficiency prevents the efficient activation of T cells to target EBV and other infections.
- Uncontrolled EBV infection increases the likelihood of developing lymphoma.
- Impaired production of CD4+ T cells resulting from abnormal magnesium transport contributes to the decreased ability to prevent infection and illness.
Autoimmune lymphoproliferative syndrome
MedlinePlus Genetics provides information about Autoimmune lymphoproliferative syndrome.
Other Names for This Gene
- bA217H1.1
- DKFZp564K142
- IAP
- implantation-associated protein
- magnesium transporter protein 1
- MRX95
- oligosaccharyltransferase 3 homolog B
- OST3B
- PRO0756
- XMEN
Genomic Location
The MAGT1 gene is found on the X chromosome.
