Recombinant人IRF6 protein (ab114891)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionO14896
    • 种属Human
    • 序列PFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSG SVRLQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ
    • 分子量37 kDa including tags
    • 氨基酸368 to 467

技术指标

Our Abpromise guarantee covers the use of ab114891 in the following tested applications.

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

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml. Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    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

常规信息

  • 别名
    • Interferon regulatory factor 6
    • IRF 6
    • IRF-6
    • IRF6
    • IRF6_HUMAN
    • LPS
    • OFC 6
    • OFC6
    • OTTHUMP00000034677
    • OTTHUMP00000034678
    • PIT
    • PPS
    • PPS1
    • VWS
    • VWS1
    see all
  • 功能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.
  • 组织特异性Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
  • 疾病相关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.
  • 序列相似性Belongs to the IRF family.
    Contains 1 IRF tryptophan pentad repeat DNA-binding domain.
  • 翻译后修饰Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
  • 细胞定位Nucleus. Cytoplasm. Translocates to nucleus in response to an activating signal.
  • Information by UniProt

Recombinant Human IRF6 protein 图像

  • 12.5% SDS-PAGE showing ab114891 at approximately 36.63kDa.
    Stained with Coomassie Blue.

Recombinant Human IRF6 protein (ab114891)参考文献

ab114891 has not yet been referenced specifically in any publications.

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