CPS1, Polyclonal Antibody

Carbamoyl-phosphate synthase [ammonia]; mitochondrial; Carbamoyl-phosphate synthetase I; CPSase I; CPS1

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

Polyclonal

Rabbit Ig

Rabbit

This CPS1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-291 amino acids from the N-terminal region of human CPS1.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-CPS1 antibody 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.

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.

Metabolism; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

CPS1 Antibody (N-term) western blot analysis in Hela cell line lysates (35ug/lane).This demonstrates the CPS1 antibody detected the CPS1 protein (arrow).

164939

carbamoyl-phosphate synthase 1, mitochondrial

carbamoyl-phosphate synthase [ammonia], mitochondrial

Carbamoyl-phosphate synthase [ammonia], mitochondrial

CPSase I  [Similar Products]

CPSM_HUMAN

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: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - alanine, aspartate and glutamate; Energy Metabolism - nitrogen; Mitochondrial; Ligase; Nucleolus; EC 6.3.4.16

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; response to amino acid stimulus; positive regulation of vasodilation; proteolysis; nitric oxide metabolic process; response to starvation; citrulline biosynthetic process; response to zinc ion; glutamine catabolic process; triacylglycerol catabolic process; midgut development; anion homeostasis; urea cycle; response to amine stimulus

Disease: Pulmonary Hypertension, Neonatal, Susceptibility To; Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)
Jia, P., et al. Schizophr. Res. 122 (1-3), 38-42 (2010) :
Pekkala, S., et al. Hum. Mutat. 31(7):801-808(2010)
Huo, R., et al. J. Biochem. Mol. Biol. 38(1):28-33(2005)
Hoshide, R., et al. Genomics 28(1):124-125(1995)

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