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Human Chr 3. In terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1 [6] [7] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, kidney disease, chemotherapy ...
Protein S. Protein S (also known as PROS) is a vitamin K -dependent plasma glycoprotein synthesized in the liver. In the circulation, Protein S exists in two forms: a free form and a complex form bound to complement protein C4b-binding protein (C4BP). In humans, protein S is encoded by the PROS1 gene. [5][6] Protein S plays a role in coagulation.
Antiphospholipid syndrome is known for causing arterial or venous blood clots, in any organ system, and pregnancy-related complications.While blood clots and pregnancy complications are the most common and diagnostic symptoms associated with APS, other organs and body parts may be affected like platelet levels, heart, kidneys, brain, and skin.
Red blood cell distribution width (RDW), as well as various types thereof (RDW-CV or RCDW and RDW-SD), is a measure of the range of variation of red blood cell (RBC) volume that is reported as part of a standard complete blood count. [1] Red blood cells have an average volume of 80–100 femtoliters, but individual cell volumes vary even in ...
Myostatin. In humans, the MSTN gene is located on the long (q) arm of chromosome 2 at position 32.2. [5] Myostatin (also known as growth differentiation factor 8, abbreviated GDF8) is a protein that in humans is encoded by the MSTN gene. [6] Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit ...
TPMT is best known for its role in the metabolism of the thiopurine drugs such as azathioprine, 6-mercaptopurine and 6-thioguanine. TPMT catalyzes the S-methylation of thiopurine drugs. Defects in the TPMT gene leads to decreased methylation and decreased inactivation of 6MP leading to enhanced bone marrow toxicity which may cause ...
Heparin-induced thrombocytopenia. Heparin-induced thrombocytopenia (HIT) is the development of thrombocytopenia (a low platelet count), due to the administration of various forms of heparin, an anticoagulant. HIT predisposes to thrombosis (the abnormal formation of blood clots inside a blood vessel). When thrombosis is identified the condition ...
Test for alcohol consumption. Carbohydrate-deficient transferrin is elevated in the blood of people with heavy alcohol consumption but elevated levels can also be found in a number of medical conditions. The limitations of the assay depend upon the methodology of the test. HPLC (High Performance Liquid Chromatography) can detect certain genetic ...