Tissue expression
Cell line expression
Protein structure
BEST1
Bestrophin 1BEST, BMD, RP50, 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. [provided by RefSeq, Nov 2008]
Top validated antibodies |
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| Novus Biologicals | 33 references | Monoclonal |
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| Invitrogen Antibodies | 2 references | Monoclonal |
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| GeneTex | 1 references | Polyclonal |
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| Antibodies.com | Polyclonal |
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| antibodies-online | 26 references | Monoclonal |
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