BEST1 Polyclonal Antibody

Reddot Biotech

BEST1 Polyclonal Antibody

5

1 mg/ml

BEST1

bestrophin 1

ARB; BEST; Best disease; Best1V1Delta2; bestrophin-1; BMD; RP50; TU15B; vitelliform macular dystrophy protein 2; VMD2

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.

-20°C

12352203