Western Blot (WB)
(Western Blot analysis of BEST1 expression in transfected 293T cell line by BEST1 polyclonal antibody. Lane 1: VMD2 transfected lysate (66.44kD). Lane 2: Non-transfected lysate.)
Mouse anti-Human BEST1 Polyclonal Antibody | anti-BEST1 antibody
BEST1 (Bestrophin 1, Bestrophin-1, Vitelliform Macular Dystrophy Protein 2, TU15B, VMD2)
Purified by Protein A affinity chromatography.
Purified by Protein A affinity chromatography.
Western Blot (WB)
(Western Blot analysis of BEST1 expression in transfected 293T cell line by BEST1 polyclonal antibody. Lane 1: VMD2 transfected lysate (66.44kD). Lane 2: Non-transfected lysate.)
Western Blot (WB)
(Western Blot analysis of BEST1 expression in transfected 293T cell line by BEST1 polyclonal antibody. Lane 1: VMD2 transfected lysate (66.44kD). Lane 2: Non-transfected lysate.)
NCBI and Uniprot Product Information
NCBI Description
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 adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
Uniprot Description
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.
Research Articles on BEST1
Similar Products
Product Notes
The BEST1 best1 (Catalog #AAA647215) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The BEST1 (Bestrophin 1, Bestrophin-1, Vitelliform Macular Dystrophy Protein 2, TU15B, VMD2) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's BEST1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Suitable for use in Western Blot. Researchers should empirically determine the suitability of the BEST1 best1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRVSFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR SVLHLNQGHC IALCPTPASL ALSLPFLHNF LGFHHCQSTL DLRPALAWGI YLATFTGILG KCSGPFLTSP WYHPEDFLGP GEGR. It is sometimes possible for the material contained within the vial of "BEST1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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