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- Proteins are large, complex molecules that play many critical roles in the body. They do most of ... regulation of the body’s tissues and organs. Proteins are made up of hundreds or thousands of ...
- ... the information needed to make functional molecules called proteins. (A few genes produce regulatory molecules that help the cell assemble proteins.) The journey from gene to protein is complex ...
- Protein S deficiency is a disorder that increases the risk of developing blood clots. People with protein S deficiency are at risk of developing a type of clot ...
- Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood ...
- Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition ...
- Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without ...
- D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D- ...
- Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, ...
- Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually ...
- The RGS9BP gene (which is also known as R9AP) provides instructions for making a protein called RGS9 binding protein. This protein is found in the retina, ...
