Overview

Description

  • NatureSynthetic

Associated products

Specifications

Our Abpromise guarantee covers the use of ab27845 in the following tested applications.

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

  • FormLiquid
  • 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
    • 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
  • FunctionPlays 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.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesContains 1 HMG box DNA-binding domain.
  • Cellular localizationNucleus.
  • Information by UniProt

References for Human SOX9 peptide (ab27845)

ab27845 has not yet been referenced specifically in any publications.

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