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.
应用类型
WB
免疫原
The immunogen is a synthetic peptide directed towards the middle region of human BEST1
来源宿主
Rabbit
反应性
Human
保存建议
For short term use, store at 2-8C up to 1 week. For long term storage, store at -20C in small aliquots to prevent freeze-thaw cycles.
其他
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