Magnesium transporter 1
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 in order to prevent infection and illness. 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 another type of T cell called 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.
2. Health Conditions Related to Genetic Changes
2.1. 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. It involves chronic EBV infection and an increased risk of a cancer of immune system cells called lymphoma. The word "neoplasia" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue.
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 the 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 likely accounts for the deficiency of this type of T cell in individuals with XMEN, contributing to the decreased ability to prevent infection and illness.
3. Other Names for This Gene
magnesium transporter protein 1
oligosaccharyltransferase 3 homolog B
The entry is from https://medlineplus.gov/genetics/gene/magt1
- Brandao K, Deason-Towne F, Perraud AL, Schmitz C. The role of Mg2+ in immunecells. Immunol Res. 2013 Mar;55(1-3):261-9. doi: 10.1007/s12026-012-8371-x.Review.
- Chaigne-Delalande B, Li FY, O'Connor GM, Lukacs MJ, Jiang P, Zheng L, Shatzer A, Biancalana M, Pittaluga S, Matthews HF, Jancel TJ, Bleesing JJ, Marsh RA,Kuijpers TW, Nichols KE, Lucas CL, Nagpal S, Mehmet H, Su HC, Cohen JI, Uzel G,Lenardo MJ. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronicEBV infection through NKG2D. Science. 2013 Jul 12;341(6142):186-91. doi:10.1126/science.1240094.
- Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, Cohen JI, Uzel G, Su HC, Lenardo MJ. Second messenger role for Mg2+ revealed byhuman T-cell immunodeficiency. Nature. 2011 Jul 27;475(7357):471-6. doi:10.1038/nature10246.
- Li FY, Chaigne-Delalande B, Su H, Uzel G, Matthews H, Lenardo MJ. XMENdisease: a new primary immunodeficiency affecting Mg2+ regulation of immunityagainst Epstein-Barr virus. Blood. 2014 Apr 3;123(14):2148-52. doi:10.1182/blood-2013-11-538686.
- Li FY, Lenardo MJ, Chaigne-Delalande B. Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primaryimmunodeficiency. Magnes Res. 2011 Sep;24(3):S109-14. doi: 10.1684/mrh.2011.0286.Review.
- Wolf FI, Trapani V. MagT1: a highly specific magnesium channel with important roles beyond cellular magnesium homeostasis. Magnes Res. 2011 Sep;24(3):S86-91.doi: 10.1684/mrh.2011.0288. Review.