製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q15475
    • 生物種Human
    • 配列MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVL KAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLCG RPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPS PREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQ NQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGHARSSNYSLPG LTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
    • 分子量57 kDa including tags
    • 領域1 to 284

関連製品

特性

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.

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態Liquid
  • 備考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...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • BOS3
    • DFNA23
    • Homeobox protein SIX1
    • OTTHUMP00000179042
    • Sine oculis homeobox homolog 1
    • SIX homeobox 1
    • SIX1
    • SIX1_HUMAN
    • TIP39
    see all
  • 機能May be involved in limb tendon and ligament development.
  • 組織特異性Specifically expressed in skeletal muscle.
  • 関連疾患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.
  • 配列類似性Belongs to the SIX/Sine oculis homeobox family.
    Contains 1 homeobox DNA-binding domain.
  • 細胞内局在Nucleus.
  • Information by UniProt

Recombinant Human SIX1 protein 画像

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

Recombinant Human SIX1 protein (ab114768) 使用論文

ab114768 has not yet been referenced specifically in any publications.

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