Bestrophin 1

Bestrophin-1 is a is_associated_with::protein that in humans is encoded by the BEST1 is_associated_with::gene.

It can be associated with is_associated_with::Vitelliform macular dystrophy.

Function
BEST1 belongs to the bestrophin family of calcium-activated anion channels, which includes is_associated_with::BEST2, BEST3, and BEST4. Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. Bestrophins are believed to function as is_associated_with::chloride channels that may also serve as regulators of intracellular calcium signalling.

Bestrophin 1 was shown to be permeable for chloride, is_associated_with::thiocyanate, is_associated_with::bicarbonate, glutamate, and GABA. Bestrophin 1-mediated GABA release has recently been demonstrated to be responsible for tonic inhibition in cerebellar is_associated_with::granule cells, and has been linked to the pathology of is_associated_with::Alzheimer's disease.

Gene structure
The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length.

BEST1 has been shown by two independent studies to be regulated by is_associated_with::Microphthalmia-associated transcription factor.

Interactions
Bestrophin 1 has been shown to interact with is_associated_with::PPP2CA. 

Antagonists

 * is_associated_with::Verteporfin