Description

  • Product name

    Recombinant Human Bestrophin/BEST1 protein (denatured)
    See all Bestrophin/BEST1 proteins and peptides
  • Purity

    > 90 % SDS-PAGE.
    ab177633 was purified by using anion-exchange chromatography (DEAE sepharose resin) and gel-filtration chromatography (Sephacryl S-200) with 20mM Tris pH 7.5, 2mM EDTA
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MGSSHHHHHHSSGLVPRGSHMGSEQLINPFGEDDDDFETNWIVDRNLQVS LLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFMGSTFNISL NKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRE SLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAP QTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSE SDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTTLK DHMDPYWALENRDEAHS
    • Predicted molecular weight

      36 kDa including tags
    • Amino acids

      292 to 585
    • Tags

      His tag N-Terminus
    • Additional sequence information

      (NP_004174).

Specifications

Our Abpromise guarantee covers the use of ab177633 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

  • Form

    Liquid
  • Additional notes

     This product was previously labelled as Bestrophin

     

  • 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.

    Information available upon request.

General Info

  • Alternative names

    • ARB
    • BEST
    • BEST 1
    • Best disease
    • Best macular dystrophy
    • BEST1
    • BEST1_HUMAN
    • Best1V1Delta2
    • Bestrophin 1
    • Bestrophin-1
    • Bestrophin1
    • BMD
    • mBest1
    • RP50
    • TU15B
    • Vitelliform macular dystrophy
    • Vitelliform macular dystrophy 2
    • Vitelliform macular dystrophy protein 2
    • VMD 2
    • VMD2
    see all
  • Function

    Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
  • Tissue specificity

    Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
  • Involvement in disease

    Defects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]; also known as Best macular dystrophy (BMD). VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
    Defects in BEST1 are the cause of retinitis pigmentosa type 50 (RP50) [MIM:613194]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
    Defects in BEST1 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
    Defects in BEST1 are the cause of bestrophinopathy autosomal recessive (ARB) [MIM:611809]. A retinopathy characterized by central visual loss, an absent electro-oculogram light rise, and a reduced electroretinogram.
    Defects in BEST1 are the cause of vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]. A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
  • Sequence similarities

    Belongs to the bestrophin family.
  • Post-translational
    modifications

    Phosphorylated by PP2A.
  • Cellular localization

    Cell membrane. Basolateral cell membrane.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of ab177633 (3 µg).

References

ab177633 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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