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Argininosuccinate synthase 1

Argininosuccinate Synthase, argininosuccinate synthetase
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on Argininosuccinate Synthase
Argininosuccinate synthase conditions the response to acute and chronic ethanol-induced liver injury in mice.
GeneRIF
Nieto et al., New York City, United States. In Hepatology, 2012
Partial argininosuccinate synthase ablation protects only in acute ethanol-induced liver injury by decreasing nitrosative stress but not in a more chronic scenario where oxidative stress and impaired fatty acid beta-oxidation are key events.
A regulatory role of Kruppel-like factor 4 in endothelial argininosuccinate synthetase 1 expression in response to laminar shear stress.
GeneRIF
Boo et al., Taegu, South Korea. In Biochem Biophys Res Commun, 2012
The present study demonstrated a key regulatory role of KLF4 in the endothelial ASS1 expression and NO production in response to laminar shear stress.
Inhibition of LPS toxicity by hepatic argininosuccinate synthase (ASS): novel roles for ASS in innate immune responses to bacterial infection.
GeneRIF
Svetlov et al., United States. In Int Immunopharmacol, 2011
The ASS release represents a potential counteracting liver reaction to LPS.
Endothelial argininosuccinate synthetase 1 regulates nitric oxide production and monocyte adhesion under static and laminar shear stress conditions.
GeneRIF
Boo et al., Taegu, South Korea. In J Biol Chem, 2011
the expression of ASS1 harmonized with that of NOS3 may be important for the optimized endothelial NO production and the prevention of the inflammatory monocyte adhesion to endothelial cells.
Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts.
GeneRIF
Jagodzinski et al., Warsaw, Poland. In Arch Oral Biol, 2010
Analysis of five SNPs of the ASS1 gene revealed that the G allele of rs7860909 is associated with increased CL/P risk.
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