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Argininosuccinate synthetase is an enzyme that participates in the urea cycle, which is a sequence of chemical reactions that takes place in the cells of the liver. The urea cycle processes excess nitrogen (which is generated as the body uses proteins) into a compound called urea that is excreted from the body in urine. The Urea Cycle is a cycle of biochemical reactions occurring in many animal organisms that produces urea from ammonia. ...
The liver is one of the largest internal organs of the human body. ...
General Name, Symbol, Number nitrogen, N, 7 Chemical series nonmetals Group, Period, Block 15, 2, p Appearance colorless Atomic mass 14. ...
A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...
Urea is an organic compound of carbon, nitrogen, oxygen and hydrogen, with the formula CON2H4 or (NH2)2CO. Urea is also known as carbamide, especially in the recommended International Non-proprietary Names (rINN) in use in Europe. ...
Urine is liquid waste excreted by the kidneys and is produced by the process of filtration. ...
Argininosuccinate synthase is responsible for the third step of the urea cycle. This reaction combines two amino acids (building blocks of proteins), citrulline and aspartate, to form a molecule called argininosuccinic acid. A series of additional chemical reactions uses argininosuccinic acid to form urea. In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ...
The chemical compound citrulline is an amino acid, the structure of which is: H2N-CONH-CH2-CH2-CH2-CHNH2-COOH L-citrulline is made from L-ornithine and carbamoyl phosphate in one of the central reactions in the urea cycle. ...
Aspartic acid, also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. ...
The gene that encodes for this enzyme, ASS is located on chromosome 9. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...
ASS (argininosuccinate synthetase) is a human gene that provides instructions for making an enzyme called argininosuccinate synthetase. ...
Chromosome 9 is one of the 23 pairs of chromosomes in humans. ...
Related conditions Citrullinemia: At least 50 mutations that cause type I citrullinemia have been identified in the ASS gene. Most of these mutations substitute one amino acid for another amino acid in the argininosuccinate synthetase enzyme. These mutations likely affect the structure of the enzyme and its ability to bind to citrulline, aspartate, and other molecules. A few mutations lead to the production of an abnormally short enzyme that cannot effectively play its role in the urea cycle. Citrullinemia s an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ...
In biology, mutations are changes to the genetic material (usually DNA or RNA). ...
Defects in argininosuccinate synthase disrupt the third step of the urea cycle, preventing the liver from processing excess nitrogen into urea. As a result, nitrogen (in the form of ammonia) and other byproducts of the urea cycle (such as citrulline) build up in the bloodstream. Ammonia is toxic, particularly to the nervous system. An accumulation of ammonia during the first few days of life leads to poor feeding, vomiting, seizures, and the other signs and symptoms of type I citrullinemia. Ammonia is a compound of nitrogen and hydrogen with the formula NH3. ...
The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and processes input from the senses, and initiates actions. ...
Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ...
This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ...
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