ASS1 Human; Argininosuccinate Synthase 1 Human Recombinant; ASS; CTLN1; EC 6.3.4.5; ASS1; Argininosuccinate Synthase 1

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 90.0% as determined by SDS-PAGE.

ASS1 Human 0.5mg/ml solution containing 20mM Tris-HCl pH-8, 0.1M NaCl, 1mM DTT & 20% glycerol.
Sterile filtered colorless solution.

ASS1 Human although stable at 4 degree C for 1 week, should be stored desiccated below -18 degree C. Please prevent freeze thaw cycles.

Small volumes of ASS1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: ASS1 Recombinant Human produced in E Coli is a single, non-glycosylated polypeptide chain containing 432 amino acids (1-412 a.a.) and having a molecular mass of 48.6 kDa. The ASS1 is fused to 20 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.

Introduction: ASS1 is involved in the urea cycle, which is a sequence of chemical reactions that is localized in liver cells. The urea cycle processes excess nitrogen that is generated as the body uses proteins. The surplus nitrogen is used to create a molecule called urea, which is excreted from the body in urine.

ENZYMES; Enzymes; Synthase

46,530 Da

argininosuccinate synthase 1

argininosuccinate synthase; argininosuccinate synthetase 1; citrulline--aspartate ligase; citrulline-aspartate ligase

Argininosuccinate synthase

ASS??[Similar Products]

ASSY_HUMAN

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 this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

ASS1: Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or *****hood. Belongs to the argininosuccinate synthase family. Type 1 subfamily.

Protein type: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; EC 6.3.4.5; Endoplasmic reticulum; Ligase

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: mitochondrial outer membrane; lysosome; endoplasmic reticulum; cytoplasm; perikaryon; nucleus; cytosol

Molecular Function: amino acid binding; toxin binding; protein binding; argininosuccinate synthase activity; ATP binding

Biological Process: response to drug; positive regulation of nitric oxide biosynthetic process; arginine biosynthetic process; response to mycotoxin; citrulline metabolic process; liver development; response to estradiol stimulus; response to zinc ion; acute-phase response; midgut development; aspartate metabolic process; kidney development; argininosuccinate metabolic process; response to nutrient; urea cycle; aging

Disease: Citrullinemia, Classic

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