Argininosuccinate synthetase

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Argininosuccinate synthetase
Identifiers
Symbol	ASS
Entrez	445
HUGO	758
OMIM	603470
RefSeq	NM_000050
UniProt	P00966
Other data
EC number	6.3.4.5
Locus	Chr. 9 q34.1

Argininosuccinate synthetase (ASS) is an enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate

ASS is responsible for the third step of the urea cycle and one of the reactions of the Citrulline-NO cycle.

Gene

The gene that encodes for this enzyme, ASS, is located on chromosome 9. In humans, ASS is expressed mostly in the cells of liver and kidney.

Pathology

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 in ASS. 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.

Defects in ASS 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.

See also

• Citrullinemia
• Urea cycle
• Synthetase

v • d • e Metabolism: amino acid metabolism - urea cycle enzymes
Main cycle	mitochondrial matrix: Carbamoyl phosphate synthetase I - Ornithine transcarbamylase cytosol: Argininosuccinate synthetase - Argininosuccinate lyase - Arginase
Regulatory/transport	N-Acetylglutamate synthase - Ornithine translocase
see also disorders

v • d • e Enzymes: ligases (EC 6)
6.1 - Carbon-Oxygen	Aminoacyl tRNA synthetase
6.2 - Carbon-Sulfur	Succinyl coenzyme A synthetase - Acetyl Co-A synthetase - Long fatty acyl CoA synthetase
6.3 - Carbon-Nitrogen	Glutamine synthetase - Ubiquitin ligase (Von Hippel-Lindau tumor suppressor, UBE3A, Mdm2, Anaphase-promoting complex) - Glutathione synthetase - CTP synthase - Adenylosuccinate synthase - Argininosuccinate synthetase - Holocarboxylase synthetase - GMP synthase - Asparagine synthetase - Carbamoyl phosphate synthase (I , II )
6.4 - Carbon-Carbon	Carbon-carbon ligases
6.5 - Phosphoric Ester	DNA ligase