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Validated All-in-One™ qPCR Primer for ASS1(NM_054012.4) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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].
Gene References into function
- Mutational analysis revealed three alleles with a common mutation and five new mutations.
- structure and use in diagnosing citrullinemia
- Sixteen novel mutations have been identified in the argininosuccinate synthetase gene in citrullinemia patients.
- argininosuccinate synthetase gene expression is stimulated by glutamine through cytosolic O-glycosylation of Sp1 in tumor cells
- Argininosuccinate synthetase has a role in preventing autotoxicity from nitric oxide overproduction
- Extensive mutation study by direct genomic sequencing of ASS demonstrated a homozygous G117S mutation in one patient and homozygous R363W mutations in the other two families
- IL-1beta induces nitric oxide which has antagonistic effects on argininosuccinate synthetase gene and on the activity of argininosuccinate synthetase
- ASS, the c-myc-regulated gene is involved in genotype-C-HBV-related HCC, suggesting that c-myc is related to the hepatocarcinogenic activity of genotype-C HBV.
- Low argininosuccinate synthetase is associated with renal cell carcinoma
- high levels of AS expression, which may be required for several arginine-dependent processes in cancer, including the production of nitric oxide, proline, pyrimidines and polyamines, is regulated by TNF-alpha
- HSCARG regulation of argininosuccinate synthetase activity is crucial for maintaining the intracellular balance between redox state and nitric oxide levels
- These results show that liver-specific enhancement of ASS gene expression is mediated in part by the cAMP signaling pathway through a distal CRE site.
- argininosuccinate synthetase behaves as a typical suckling enzyme because its expression all but disappears in the putative weaning period of human infants.