Recombinant人SIX1 protein (ab114768)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ15475
    • 种属Human
    • 序列MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVL KAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLCG RPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPS PREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQ NQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGHARSSNYSLPG LTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
    • 分子量57 kDa including tags
    • 氨基酸1 to 284

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技术指标

Our Abpromise guarantee covers the use of ab114768 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 µg/ul.
    Best use within three months from the date of receipt of this protein.
  • 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
    • BOS3
    • DFNA23
    • Homeobox protein SIX1
    • OTTHUMP00000179042
    • Sine oculis homeobox homolog 1
    • SIX homeobox 1
    • SIX1
    • SIX1_HUMAN
    • TIP39
    see all
  • 功能May be involved in limb tendon and ligament development.
  • 组织特异性Specifically expressed in skeletal muscle.
  • 疾病相关Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23) [MIM:605192]. A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.
    Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients.
    Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.
  • 序列相似性Belongs to the SIX/Sine oculis homeobox family.
    Contains 1 homeobox DNA-binding domain.
  • 细胞定位Nucleus.
  • Information by UniProt

Recombinant Human SIX1 protein 图像

  • 12.5% SDS-PAGE Stained with Coomassie Blue showing ab114768 at approximately 56.98kDa.

Recombinant Human SIX1 protein (ab114768)参考文献

ab114768 has not yet been referenced specifically in any publications.

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