Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVL KAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLCG RPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPS PREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQ NQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGHARSSNYSLPG LTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
    • Molecular weight
      57 kDa including tags
    • Amino acids
      1 to 284

Associated products

Specifications

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.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    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...

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
    • BOS3
    • DFNA23
    • Homeobox protein SIX1
    • OTTHUMP00000179042
    • Sine oculis homeobox homolog 1
    • SIX homeobox 1
    • SIX1
    • SIX1_HUMAN
    • TIP39
    see all
  • Function
    May be involved in limb tendon and ligament development.
  • Tissue specificity
    Specifically expressed in skeletal muscle.
  • Involvement in disease
    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.
  • Sequence similarities
    Belongs to the SIX/Sine oculis homeobox family.
    Contains 1 homeobox DNA-binding domain.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

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

References

ab114768 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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