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Recombinant Human Bestrophin/BEST1 protein (ab152797)

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SDS-PAGE - Recombinant Human Bestrophin/BEST1 protein (ab152797)

    Key features and details

    • Expression system: Wheat germ
    • Suitable for: ELISA, SDS-PAGE, WB

    Description

    • Product name

      Recombinant Human Bestrophin/BEST1 protein
      See all Bestrophin/BEST1 proteins and peptides
    • Expression system

      Wheat germ
    • Protein length

      Full length protein
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLV SGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQA GFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNP AKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWI VDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRVSFM GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRT KLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQ RPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAK KSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSP TNIHTTLKDHMDPYWALENRSVLHLNQGHCIALCPTPASLALSLPFLHNF LGFHHCQSTLDLRPALAWGIYLATFTGILGKCSGPFLTSPWYHPEDFLGP GEGR
      • Predicted molecular weight

        96 kDa including tags
      • Amino acids

        1 to 604

    Associated products

    • Related Products

      • Anti-Bestrophin/BEST1 antibody (ab14928)

    Specifications

    Our Abpromise guarantee covers the use of ab152797 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

      This product was previously labelled as Bestrophin.

       

    • 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: 0.31% Glutathione, 0.79% Tris HCl

    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.
    • Target information above from: UniProt accession O76090 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human Bestrophin/BEST1 protein (ab152797)
      SDS-PAGE - Recombinant Human Bestrophin/BEST1 protein (ab152797)
      12.5% SDS-PAGE showing ab152797 stained with Coomassie Blue.

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • Datasheet
  • References (0)

    Publishing research using ab152797? Please let us know so that we can cite the reference in this datasheet.

    ab152797 has not yet been referenced specifically in any publications.

    Customer reviews and Q&As

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