Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGSSHHHHHH SSGLVPRGSH MGSHMSMLPS FGFTQEQVAC VCEVLQQGGN LERLGRFLWS LPACDHLHKN ESVLKAKAVV AFHRGNFREL YKILESHQFS PHNHPKLQQL WLKAHYVEAE KLRGRPLGAV GKYRVRRKFP LPRTIWDGEE TSYCFKEKSR GVLREWYAHN PYPSPREKRE LAEATGLTTT QVSNWFKNRR QRDRAAEAKE RENTENNNSS SNKQNQLSPL EGGKPLMSSS EEEFSPPQSP DQNSVLLLQG NMGHARSSNY SLPGLTASQP SHGLQTHQHQ LQDSLLGPLT SSLVDLGS
    • Molecular weight

      35 kDa including tags
    • Amino acids

      1 to 284
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab134521 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity

    > 85 % SDS-PAGE.

  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 8.00
    Constituents: 12.01% Urea, 0.32% Tris HCl, 10% Glycerol

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

  • 15% SDS-PAGE analysis of ab134521 (3ug)

References

ab134521 has not yet been referenced specifically in any publications.

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