Recombinant人SOX9 protein (ab117176)

概述

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • AccessionP48436
    • 种属Human
    • 分子量18 kDa including tags
    • 氨基酸1 to 140
    • 标签His tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab117176 in the following tested applications.

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

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

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

    pH: 7.50
    Constituents: 20% Glycerol, Tris acetate, 0.03% EDTA

常规信息

  • 别名
    • campomelic dysplasia autosomal sex reversal
    • CMD 1
    • CMD1
    • CMPD 1
    • CMPD1
    • SOX 9
    • Sox9
    • SOX9_HUMAN
    • SRA 1
    • SRA1
    • SRXX2
    • SRXY10
    • SRY (sex determining region Y) box 9
    • SRY (sex determining region Y) box 9 (campomelic dysplasia autosomal
    • SRY (sex determining region Y)-box 9
    • SRY (sex-determining region Y)-box 9 protein
    • SRY related HMG box gene 9
    • Transcription factor SOX 9
    • Transcription factor SOX-9
    • transcription factor SOX9
    see all
  • 功能Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
  • 疾病相关Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage.
  • 序列相似性Contains 1 HMG box DNA-binding domain.
  • 细胞定位Nucleus.
  • Information by UniProt

Recombinant Human SOX9 protein (ab117176)参考文献

ab117176 has not yet been referenced specifically in any publications.

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