Recombinant人SOX10 protein (ab114238)

概述

  • 产品名称Recombinant人SOX10 protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionP56693
    • 种属Human
    • 序列KPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSL PHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQR
    • 分子量36 kDa including tags
    • 氨基酸336 to 433

技术指标

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.

  • 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
  • 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
    • 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
  • 功能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.
  • 组织特异性Expressed in fetal brain and in adult brain, heart, small intestine and colon.
  • 疾病相关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.
  • 序列相似性Contains 1 HMG box DNA-binding domain.
  • 细胞定位Cytoplasm. Nucleus.
  • Information by UniProt

Recombinant Human SOX10 protein 图像

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

Recombinant Human SOX10 protein (ab114238)参考文献

ab114238 has not yet been referenced specifically in any publications.

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