Overview

  • Product nameRecombinant Human SOX10 protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP56693
    • SpeciesHuman
    • SequenceKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSL PHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQR
    • Molecular weight36 kDa including tags
    • Amino acids336 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

  • FormLiquid
  • Additional notesProtein 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
  • FunctionTranscription 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 specificityExpressed in fetal brain and in adult brain, heart, small intestine and colon.
  • Involvement in diseaseDefects 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 similaritiesContains 1 HMG box DNA-binding domain.
  • Cellular localizationCytoplasm. Nucleus.
  • Information by UniProt

Recombinant Human SOX10 protein images

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

References for Recombinant Human SOX10 protein (ab114238)

ab114238 has not yet been referenced specifically in any publications.

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