BEST1, Polyclonal Antibody

Anti -BEST1 (Bestrophin 1, Bestrophin-1, Vitelliform Macular Dystrophy Protein 2, TU15B, VMD2)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 11; NC_000011.9 (61717356..61731935). Location: 11q13

Polyclonal

IgG

Mouse

Recognizes human BEST1.

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-BEST1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.

Antibodies; Abs to Proteins

Western Blot (WB)

Suitable for use in Western Blot.

67,684 Da[Similar Products]

bestrophin 1

bestrophin-1; Best disease; Best1V1Delta2; vitelliform macular dystrophy protein 2

Bestrophin-1

VMD2  [Similar Products]

BEST1_HUMAN

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to *****-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. Ref.3 Ref.7 Ref.8

Subunit structure: Tetramer or pentamers. May interact with PPP2CB and PPP2R1B

By similarity.

Subcellular location: Cell membrane; Multi-pass membrane protein. Basolateral cell membrane Ref.9.

Tissue specificity: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Post-translational modification: Phosphorylated by PP2A

By similarity.

Involvement in disease: Vitelliform macular dystrophy 2 (VMD2) [MIM:153700]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.8 Ref.10 Ref.11 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.25 Ref.26Retinitis pigmentosa 50 (RP50) [MIM:613194]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.24Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23

Sequence similarities: Belongs to the bestrophin family.

Sequence caution: The sequence BAH12234.1 differs from that shown. Reason: Erroneous initiation. The sequence BAH13472.1 differs from that shown. Reason: Erroneous initiation.

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