Anti-Bestrophin Antibody (Biotin)
|Description:||Rabbit polyclonal antibody to Bestrophin (Biotin)|
|Applications:||CM, ELISA, IF, IHC, IP, WB|
|Concentration:||0.75 µg/µl in antibody stabilization buffer|
|Background:||Forms calcium sensitive chloride channels. Highly permeable to bicarbonate.|
|Storage:||-20⁰C for long term storage|
|Accession No:||NCBI : NP_004174.1|
|Recommended Dilutions:||Confocal Microscopy: 1:100; DB: 1:10,000; ELISA: 1:10,000; Immunocytochemistry: 1:100; Immunofluorescence: 1:100; Immunohistochemistry: 1:100; Immunoprecipitation: 1:200; Western Blot: 1:473|
Target (Information from UniProt)
|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:||Macular dystrophy, vitelliform, 2: 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.
Retinitis pigmentosa 50: 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.
Bestrophinopathy, autosomal recessive: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
Vitreoretinochoroidopathy, autosomal dominant: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
|Sequence Similarities:||Belongs to the bestrophin family.|
|Post-Translational Modification:||Phosphorylated by PP2A.|
|Cellular Location:||Cell membrane. Basolateral cell membrane.|