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.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.