The PIGA gene provides instructions for making a protein critical for the production of a GPI anchor, a molecule that attaches proteins to the cell surface.
In more detail:
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Function: The PIGA gene encodes the phosphatidylinositol glycan anchor biosynthesis, class A protein (PIG-A). This protein is involved in the first step of the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway.
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GPI Anchors: GPI anchors are complex glycolipids that attach many proteins to the cell surface. These proteins are crucial for a variety of cellular functions, including cell signaling, adhesion, and enzyme activity.
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Importance: The PIGA gene is located on the X chromosome. Because males have only one X chromosome, a mutation in the PIGA gene can have significant consequences.
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Diseases associated: Mutations in the PIGA gene are associated with:
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Paroxysmal nocturnal hemoglobinuria (PNH): This acquired genetic disorder causes red blood cells to be destroyed prematurely (hemolysis). This happens because the PIGA mutation leads to a deficiency of GPI-anchored proteins on the surface of blood cells, making them susceptible to destruction by the complement system.
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Other conditions: Research is ongoing to understand the full range of disorders that may be linked to PIGA gene mutations.
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In summary, the PIGA gene is vital for GPI anchor synthesis, and mutations in this gene can lead to serious health problems like paroxysmal nocturnal hemoglobinuria.
