Description

  • Product name

    Recombinant Human SOX10 protein
  • Expression system

    Wheat germ
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      KPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSL PHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQR
    • Predicted molecular weight

      36 kDa including tags
    • Amino acids

      336 to 433

Specifications

Our Abpromise guarantee covers the use of ab114238 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names

    • DOM
    • Dominant megacolon mouse human homolog of
    • MGC15649
    • PCWH
    • SOX 10
    • SOX10
    • SOX10_HUMAN
    • SRY (sex determining region Y) box 10
    • SRY box 10
    • SRY box containing gene 10
    • SRY related HMG box gene 10
    • Transcription factor SOX 10
    • Transcription factor SOX-10
    • WS2E
    • WS4
    • WS4C
    see all
  • Function

    Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia.
  • Tissue specificity

    Expressed in fetal brain and in adult brain, heart, small intestine and colon.
  • Involvement in disease

    Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
    Defects in SOX10 are a cause of Waardenburg syndrome type 4C (WS4C) [MIM:613266]; also known as Waardenburg-Shah syndrome. WS4C is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
    Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]. YDBHS consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome.
    Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
  • Sequence similarities

    Contains 1 HMG box DNA-binding domain.
  • Cellular localization

    Cytoplasm. Nucleus.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE showing ab114238 at approximately 36.41kDa stained with Coomassie Blue.

References

ab114238 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab114238.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC PROCEDURES"
For licensing inquiries, please contact partnerships@abcam.com

Sign up