Recombinant Human CPT2 protein (ab114540)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      WFDKSFNLIIAKDGSTAIHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQR
    • Molecular weight
      37 kDa including tags
    • Amino acids
      351 to 450

Associated products

Specifications

Our Abpromise guarantee covers the use of ab114540 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
    This protein is best used within three months from the date of receipt.
  • 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: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Carnitine O palmitoyltransferase 2
    • Carnitine O palmitoyltransferase 2 mitochondrial
    • Carnitine O-palmitoyltransferase 2
    • Carnitine palmitoyltransferase 2
    • Carnitine palmitoyltransferase II
    • CPT 1
    • CPT 2
    • CPT II
    • CPT1
    • CPT2
    • CPT2_HUMAN
    • CPTASE
    • CPTII
    • IIAE4
    • mitochondrial
    see all
  • Pathway
    Lipid metabolism; fatty acid beta-oxidation.
  • Involvement in disease
    Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]; also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.
    Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2D-LN) [MIM:608836]; also known as lethal neonatal CPT-II deficiency. It is a lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.
  • Sequence similarities
    Belongs to the carnitine/choline acetyltransferase family.
  • Cellular localization
    Mitochondrion inner membrane.
  • Information by UniProt

Images

  • ab114540 analysed on a 12.5% SDS-PAGE Stained with Coomassie Blue.

References

ab114540 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

We have 2 CPT2 proteins in our catalogue: ab114540 and ab114539.

ab114540 is not a full length protein but corresponds to amino acids 351-450 of the full length protein and has a molecular weight of 36.63 kDa.

ab114539 is the full len...

Read More

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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