Overview

  • Product name

    Recombinant Human CPS1 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      ANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDN YVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKA A
    • Molecular weight

      37 kDa including tags
    • Amino acids

      1400 to 1500

Associated 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.

  • Applications

    Western blot

    SDS-PAGE

    ELISA

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • 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

  • Alternative names

    • Carbamoyl phosphate synthase
    • Carbamoyl phosphate synthase [ammonia]
    • Carbamoyl phosphate synthase [ammonia] mitochondrial
    • Carbamoyl phosphate synthetase 1
    • Carbamoyl phosphate synthetase 1 mitochondrial
    • Carbamoyl phosphate synthetase I
    • Carbamoyl-phosphate synthase [ammonia]
    • Carbamoyl-phosphate synthetase I
    • Carbamoylphosphate synthase
    • Carbamoylphosphate synthetase 1
    • Carbamoylphosphate synthetase I
    • CPS 1
    • Cps1
    • CPSase 1
    • CPSase I
    • CPSASE1
    • CPSM_HUMAN
    • mitochondrial
    • MS738
    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

Images

  • 12.5% SDS-PAGE showing ab152296 stained with Coomassie Blue.

References

ab152296 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab152296.
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