Overview

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human

Associated products

Specifications

Our Abpromise guarantee covers the use of ab21454 in the following tested applications.

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

  • Applications

    Blocking - Blocking peptide for Anti-MiTF antibody (ab20663)

  • Form
    Liquid
  • Additional notes

    - First try to dissolve a small amount of peptide in either water or buffer. The more charged residues on a peptide, the more soluble it is in aqueous solutions.
    - If the peptide doesn’t dissolve try an organic solvent e.g. DMSO, then dilute using water or buffer.
    - Consider that any solvent used must be compatible with your assay. If a peptide does not dissolve and you need to recover it, lyophilise to remove the solvent.
    - Gentle warming and sonication can effectively aid peptide solubilisation. If the solution is cloudy or has gelled the peptide may be in suspension rather than solubilised.
    - Peptides containing cysteine are easily oxidised, so should be prepared in solution just prior to use.

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    Information available upon request.

General Info

  • Alternative names
    • BHLHE32
    • bHLHe32
    • Class E basic helix-loop-helix protein 32
    • CMM8
    • Homolog of mouse microphthalmia
    • Mi
    • Microphthalmia associated transcription factor
    • Microphthalmia, mouse, homolog of
    • Microphthalmia-associated transcription factor
    • MITF
    • MITF_HUMAN
    • mitfa
    • nacre
    • WS2
    • WS2A
    • z3A.1
    see all
  • Function
    Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
  • Tissue specificity
    Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells.
  • Involvement in disease
    Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance.
    Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness.
    Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.
  • Sequence similarities
    Belongs to the MiT/TFE family.
    Contains 1 basic helix-loop-helix (bHLH) domain.
  • Post-translational
    modifications
    Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

  • Western blot - Human MiTF peptide (ab21454)
    Western blot - Human MiTF peptide (ab21454)
    All lanes : Anti-MiTF antibody (ab20663) at 1 µg/ml

    Lane 1 : HeLa whole cell lysate
    Lane 2 : HeLa nuclear lysate
    Lane 3 : A431 whole cell lysate
    Lane 4 : HeLa whole cell lysate with Human MiTF peptide (ab21454) at 1 µg/ml
    Lane 5 : HeLa nuclear lysate with Human MiTF peptide (ab21454) at 1 µg/ml
    Lane 6 : A431 whole cell lysate with Human MiTF peptide (ab21454) at 1 µg/ml

    Lysates/proteins at 1 µg/ml per lane.

    Secondary
    All lanes : Alexa Fluor Goat polyclonal to Rabbit IgG (700) at 1/10000 dilution

    Observed band size: 52 kDa (why is the actual band size different from the predicted?)
    Additional bands at: 25 kDa, 37 kDa. We are unsure as to the identity of these extra bands.

References

ab21454 has not yet been referenced specifically in any publications.

Publishing research using ab21454? Please let us know so that we can cite the reference in this datasheet.

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