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Argininosuccinate Synthetase 1 (ASS1)

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CTLN1; Citrulline--aspartate ligase

Argininosuccinate Synthetase 1 (ASS1)
CCC C317
HGNC 758
MGI 88090
PubMed 19006241
RGD 2163
UniProt P00966
Wiki ASS1

Argininosuccinate synthetase 1 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.

The ASS1 gene encodes ardininosuccinate synthetase-1, a cytosolic urea cycle enzyme mainly expressed in periportal hepatocytes, but also in most other body tissues. The enzyme is a homotetrameric protein composed of 45-kD monomers and is involved in the synthesis of arginine and catalyzes that condensation of citrulline and aspartate to argininosuccinate using ATP.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC317Hu01 Recombinant Argininosuccinate Synthetase 1 (ASS1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC317Hu01 Polyclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) WB; IHC; ICC; IP.
MAC317Hu22 Monoclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) WB; IHC; ICC; IP.
Assay Kits SEC317Hu ELISA Kit for Argininosuccinate Synthetase 1 (ASS1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Argininosuccinate Synthetase 1 (ASS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Argininosuccinate Synthetase 1 (ASS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Argininosuccinate Synthetase 1 (ASS1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Argininosuccinate Synthetase 1 (ASS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Argininosuccinate Synthetase 1 (ASS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Argininosuccinate Synthetase 1 (ASS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Argininosuccinate Synthetase 1 (ASS1) ELISA Kit Customized Service Offer
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  17. "Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia."Am. J. Hum. Genet. 55:1103-1112(1994) [PubMed] [Europe PMC] [Abstract]
  18. "Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells."Enzyme Protein 48:251-264(1994) [PubMed] [Europe PMC] [Abstract]
  19. "Phenotype and genotype heterogeneity in Mediterranean citrullinemia."Mol. Genet. Metab. 74:396-398(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients." Hum. Mutat. 22:24-34(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)."Mol. Genet. Metab. 80:302-306(2003) [PubMed] [Europe PMC] [Abstract]
  22. "Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia."Prenat. Diagn. 26:242-247(2006) [PubMed] [Europe PMC] [Abstract]
  23. "Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients."Clin. Chim. Acta 438:323-329(2015) [PubMed] [Europe PMC] [Abstract]