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Bestrophin 1
Bestrophin-1 is a protein that in humans is encoded by the ''BEST1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7439 )〕 It can be associated with Vitelliform macular dystrophy. ==Function==
BEST1 belongs to the bestrophin family of calcium-activated anion channels, which includes 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 chloride channels that may also serve as regulators of intracellular calcium signalling. Bestrophin 1 was shown to be permeable for chloride, thiocyanate, bicarbonate, glutamate, and GABA. Bestrophin 1-mediated GABA release has recently been demonstrated to be responsible for tonic inhibition in cerebellar granule cells, and has been linked to the pathology of Alzheimer's disease.
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