Recombinant Human Bestrophin protein (ab152798)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQT PLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESD
    • Molecular weight
      37 kDa including tags
    • Amino acids
      361 to 460

Associated products

Specifications

Our Abpromise guarantee covers the use of ab152798 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

    SDS-PAGE

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • 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.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152798 stained with Coomassie Blue.

References

ab152798 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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