argininosuccinate synthase

Also found in: Wikipedia.


A gene on chromosome 9q34.1 that encodes an enzyme which catalyses the penultimate step of the arginine biosynthetic pathway.
Molecular pathology
ASS1 mutations cause citrullinemia type 1.
Mentioned in ?
References in periodicals archive ?
Cit is transported out from mitochondrion and bound to aspartate by argininosuccinate synthase, and aspartate is provided by the mitochondrial transporter citrin.
The antioxidant glutathione, which induces the activity of superoxide dismutase, requires arginine formed by argininosuccinate synthase (spot 12) [25, 26].
In contrast, urea cycle enzymes, i.e., liver-type arginase (ARG), ornithine carbamoyltransferase (OCT), and argininosuccinate synthase (AS), exist almost exclusively in the liver (1-3) and may serve as more specific markers of liver injury.