Search Thermo Fisher Scientific
图: 1 / 3
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 "scrambling the egg". 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BEST 1; Best disease; Best1V1Delta2; Bestrophin-1; Bestrophin1; TU15B; Vitelliform macular dystrophy protein 2; VMD 2
基因别名: ARB; BEST; BEST1; BMD; RP50; TU15B; VMD2
UniProt ID: (Human) O76090
Entrez Gene ID: (Human) 7439