The synthetic peptide sequence is RFIYRLALTEEQQLMFEKLTLYCD
Add 0.2 mL of distilled water, will 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BEST 1; Best disease; Best1V1Delta2; Bestrophin-1; Bestrophin1; TU15B; Vitelliform macular dystrophy protein 2; VMD 2
Gene Aliases: ARB; BEST; BEST1; BMD; RP50; TU15B; VMD2
UniProt ID: (Human) Q8IUR9
Entrez Gene ID: (Human) 7439
Molecular Function: ion channel