Overview

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      C-TPSMQLPPALPPQ
    • Amino acids
      455 to 504

Associated products

Specifications

Our Abpromise guarantee covers the use of ab23204 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-IRF6 antibody (ab10925)

  • Form
    Liquid
  • 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.

General Info

  • Alternative names
    • Interferon regulatory factor 6
    • IRF 6
    • IRF-6
    • IRF6
    • IRF6_HUMAN
    • LPS
    • OFC 6
    • OFC6
    • OTTHUMP00000034677
    • OTTHUMP00000034678
    • PIT
    • PPS
    • PPS1
    • VWS
    • VWS1
    see all
  • Function
    Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation.
  • Tissue specificity
    Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
  • Involvement in disease
    Defects in IRF6 are a cause of van der Woude syndrome (VWS) [MIM:119300]; also known as lip-pit syndrome (LPS). It is an autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. Penetrance is incomplete. Van der Woude and popliteal pterygium syndrome are allelic disorders.
    Defects in IRF6 are the cause of popliteal pterygium syndrome (PPS) [MIM:119500]. PPS is an autosomal dominant developmental disorder characterized by cleft lip and/or cleft palate, and skin and genital anomalies. Penetrance is incomplete and expressivity is variable. It shows orofacial phenotypic similarities with van der Woude syndrome. Van der Woude and popliteal pterygium syndrome are allelic disorders.
    Genetic variation in IRF6 is associated with non-syndromic orofacial cleft type 6 (OFC6) [MIM:608864]; also called non-syndromic cleft lip with or without cleft palate 6. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
  • Sequence similarities
    Belongs to the IRF family.
    Contains 1 IRF tryptophan pentad repeat DNA-binding domain.
  • Post-translational
    modifications
    Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
  • Cellular localization
    Nucleus. Cytoplasm. Translocates to nucleus in response to an activating signal.
  • Information by UniProt

References

ab23204 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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