Recombinant Human Fumarylacetoacetate hydrolase / FAA protein (ab152378)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLF TGPVLSKHQDVFNQPTLNSF
    • Molecular weight
      33 kDa including tags
    • Amino acids
      1 to 70

Specifications

Our Abpromise guarantee covers the use of ab152378 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • 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
    • Beta diketonase
    • FAA
    • FAH
    • Fumarylacetoacetase
    • Fumarylacetoacetate
    • Fumarylacetoacetate hydrolase
    see all
  • Relevance
    Fumarylacetoacetate hydrolase / FAA is the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). This is an autosomal recessive inborn error of metabolism that occurs in both an acute and a chronic form. Clinical characteristics of the acute form include hepatic failure and death in infancy, whereas children with the chronic form have renal tubular dysfunction and hypophosphatemic rickets, progressive liver disease with development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.

Images

  • 12.5% SDS-PAGE analysis of ab152378 stained with Coomassie Blue.

References

ab152378 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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

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