Protein C deficiency
Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein C results in thrombotic (clotting) disease and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing hemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein C deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal.
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An informal name for a molecular cell biology system of signals or “address tags” that guide the movement of a protein within a cell. In more technical terms, protein ZIP codes* are molecular signals that direct the protein from the endoplasmic reticulum, where it is assembled, to the cytoplasm of the cell and into other […]
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A condition in which there is excessive loss of plasma protein into the intestine. Protein-losing enteropathy can be due to a number of different causes including extensive ulceration of the intestine, intestinal lymphatic blockage, gluten enteropathy, and infiltration of leukemic cells into the intestinal wall.