Species Human Entrez 7439 | Human Mouse Ensembl ENSG00000167995 | |
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Aliases BEST1, ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1 External IDs MGI: 1346332 HomoloGene: 37895 GeneCards: BEST1 | ||
Bestrophin-1 is a protein that in humans is encoded by the BEST1 gene.
Contents
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.
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 Microphthalmia-associated transcription factor.
Interactions
Bestrophin 1 has been shown to interact with PPP2CA.[1]