Recombinant Human CPS1 protein (ab152296)
Key features and details
- Expression system: Wheat germ
- Suitable for: WB, SDS-PAGE, ELISA
Description
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Product name
Recombinant Human CPS1 protein -
Expression system
Wheat germ -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
ANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDN YVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKA A -
Predicted molecular weight
37 kDa including tags -
Amino acids
1400 to 1500
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab152296 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
SDS-PAGE
ELISA
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- Carbamoyl phosphate synthase
- Carbamoyl phosphate synthase [ammonia]
- Carbamoyl phosphate synthase [ammonia] mitochondrial
see all -
Function
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. -
Tissue specificity
Primarily in the liver and small intestine. -
Involvement in disease
Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. 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.
Note=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. -
Sequence similarities
Contains 2 ATP-grasp domains.
Contains 1 glutamine amidotransferase type-1 domain. -
Domain
The type-1 glutamine amidotransferase domain is defective. -
Cellular localization
Mitochondrion. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab152296 has not yet been referenced specifically in any publications.