ELISA/assay

Human Carbamoyl-phosphate synthase [ammonia], mitochondrial, CPS1 ELISA Kit

MBS943474

48-Strip-Wells

510 USD

ELISA Kit

Human Carbamoyl-phosphate synthase [ammonia], mitochondrial, CPS1 ELISA Kit

carbamoyl-phosphate synthetase 1, mitochondrial

Human Carbamoyl-phosphate synthase [ammonia]; mitochondrial (CPS1) ELISA kit; CPSase I; carbamoyl-phosphate synthetase 1; carbamoylphosphate synthetase I; carbamoyl-phosphate synthetase 1; mitochondrial

carbamoyl-phosphate synthase; Carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoylphosphate synthetase I; carbamoyl-phosphate synthase 1, mitochondrial; Carbamoyl-phosphate synthetase I; CPSase I

CPS1

CPS1; CPS1; PHN; CPSASE1; CPSase I

CPSM_HUMAN

Human

1,500

This assay has high sensitivity and excellent specificity for detection of human CPS1. No significant cross-reactivity or interference between human CPS1 and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Samples: Serum, plasma, tissue homogenates. Assay Type: Sandwich. Detection Range: 78 pg/ml-5000 pg/ml. Sensitivity: Typically less than 19.5 pg/ml

Intra-assay Precision: Intra-assay Precision (Precision within an assay): CV%<8%. Three samples of known concentration were tested twenty times on one plate to assess. Inter-assay Precision: Inter-assay Precision (Precision between assays): CV%<10%. Three samples of known concentration were tested in twenty assays to assess.

Principle of the Assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for CPS1 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any CPS1 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for CPS1 is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of CPS1 bound in the initial step. The color development is stopped and the intensity of the color is measured.

169790915

NP_001116105.1

NM_001122633.2

P31327

164,939 Da

Alanine, Aspartate And Glutamate Metabolism Pathway (101142); Alanine, Aspartate And Glutamate Metabolism Pathway (100063); Arginine And Proline Metabolism Pathway (82957); Arginine And Proline Metabolism Pathway (323); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Urea Cycle Pathway (413351); Urea Cycle Pathway (106171); Urea Cycle Pathway (468222); Urea Cycle And Metabolism Of Amino Groups Pathway (198758)

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

CPS1: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D). CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Energy Metabolism - nitrogen; Nucleolus; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 6.3.4.16; Amino Acid Metabolism - arginine and proline; Mitochondrial; Ligase. Chromosomal Location of Human Ortholog: 2q35. Cellular Component: protein complex; mitochondrial matrix; mitochondrial inner membrane; nucleolus. Molecular Function: carbamoyl-phosphate synthase (ammonia) activity; protein binding; glutamate binding; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; endopeptidase activity; protein complex binding; phospholipid binding; calcium ion binding; ATP binding. Biological Process: response to food; response to drug; glycogen catabolic process; arginine biosynthetic process; response to toxin; response to lipopolysaccharide; homocysteine metabolic process; positive regulation of vasodilation; proteolysis; response to amino acid stimulus; nitric oxide metabolic process; response to starvation; citrulline biosynthetic process; response to zinc ion; glutamine catabolic process; triacylglycerol catabolic process; midgut development; response to amine stimulus; urea cycle; anion homeostasis. Disease: Pulmonary Hypertension, Neonatal, Susceptibility To; Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

48-Strip-Wells

510 USD

96-Strip-Wells

725

5x96-Strip-Wells

2565

10x96-Strip-Wells

4800