Overview

  • Product name
    Recombinant Human PAX4 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      RALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFS PSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKW
    • Molecular weight
      36 kDa including tags
    • Amino acids
      121 to 217

Associated products

Specifications

Our Abpromise guarantee covers the use of ab114607 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 mg/ml.
    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
    • KPD
    • MGC129960
    • MODY9
    • Paired box 4
    • Paired box gene 4
    • paired box homeotic gene 4
    • Paired box protein Pax-4
    • Paired domain gene 4
    • Pax4
    • PAX4_HUMAN
    see all
  • Function
    Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.
  • Involvement in disease
    Defects in PAX4 are a cause of noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type 2 or maturity-onset diabetes. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance.
    Genetic variations in PAX4 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100]. IDDM normally starts in childhood or adolescence and is caused by the body's own immune system which destroys the insulin-producing beta cells in the pancreas. Classical features are polydipsia, polyphagia and polyuria, due to hyperglycemia-induced osmotic diuresis.
    Defects in PAX4 are a cause of susceptibility to diabetes mellitus ketosis-prone (KPD) [MIM:612227]. KPD is an atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding.
    Defects in PAX4 are the cause of maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
  • Sequence similarities
    Belongs to the paired homeobox family.
    Contains 1 homeobox DNA-binding domain.
    Contains 1 paired domain.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

  • ab114607 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References

ab114607 has not yet been referenced specifically in any publications.

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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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