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. Alteative splicing results in multiple variants encoding distinct isoforms.
Categories
Primary Antibodies
Clonality
polyclonal
Host
Rabbit
Immunogen
bestrophin 1
Isotype
IgG
Molecular Weight
70 kDa
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Synonyms
BEST
Antigen
Bestrophin-1
Uniprot
O76090
Gene Id
7439
Research Area
Neuroscience
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)