Bestrophin 1 Polyclonal Antibody, Invitrogen™

Description

• Reconstitute with 0.2 mL of distilled water to yield a concentration of 500 μg/mL
• The retinal pigment epithelium (RPE) and choroid represent a differentiated system of the eye that sustains normal retinal health and function
• Best vitelliform macular dystrophy, known as Best disease, is an early-onset autosomal dominant condition in which accumulation of lipofuscin-like material within and beneath the RPE leads to progressive loss of central vision
• The lipofuscin-like material in the macular area appears as a yellow mass like the yolk of an egg that later becomes darker and irregular in color, a process known as &quotescrambling the egg&quote
• Best disease is frequently a reflection of mutations in the Bestrophin gene, which encodes a protein containing four putative transmembrane domains and localizes to the basolateral plasma membrane of RPE cells
• Human Bestrophin forms oligomeric chloride channels that are sensitive to intracellular calcium
• Missense mutations at the Bestrophin locus reduces or abolishes Bestrophin protein mediated membrane current
• The human Bestrophin gene encodes a 585 amino acid protein.