Bestrophin est un gène codé par le symbole BEST1. D'autres noms incluent: Bestrophin-1; TU15B; Vitelliform macular dystrophy protein 2; BEST1; VMD2. Bestrophin a une masse de 67.68kDa, une longueur d'acide aminé de 585, et est impliqué dans les maladies: Macular dystrophy, vitelliform, 2; Retinitis pigmentosa 50; Bestrophinopathy, autosomal recessive; Vitreoretinochoroidopathy, autosomal dominant.
Nous proposons 16 des anticorps contre Bestrophin, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris, Rat, Singe et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Résumé Entrez
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.
Spécificité tissulaire
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the bestrophin family.
Modification post-traductionnelle
Phosphorylated by PP2A.
Localisation cellulaire
Cell membrane. Basolateral cell membrane.
