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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.
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 ...
Protein is a nutrient needed by the human body for growth and maintenance. Aside from water, proteins are the most abundant kind of molecules in the body. Protein can be found in all cells of the body and is the major structural component of all cells in the body, especially muscle. This also includes body organs, hair and skin.
Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process.
The signs of protein deficiency include: Brittle hair and nails. Muscle loss. Feeling weak and lethargic. A compromised immune system. Stress fractures. Swelling.
Lysosomal storage diseases (LSDs; / ˌlaɪsəˈsoʊməl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1][2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several ...
Kwashiorkor is a form of protein deficiency, which can result in both osmotic imbalances and irregularities in the lymphatic system. [3] Kwashiorkor is most notable for peripheral edema. The presence of edema in kwashiorkor is correlated with very low albumin concentration (hypoalbuminemia).