Bestrophin 1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Bestrophin-1 is a protein that in humans is encoded by the BEST1 gene.[1][2][3]
It can be associated with Vitelliform macular dystrophy.
Contents
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.[4]
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,[5] and has been linked to the pathology of Alzheimer's disease.[6]
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.[3][7][8]
BEST1 has been shown by two independent studies to be regulated by Microphthalmia-associated transcription factor.[9][10]
Interactions
Bestrophin 1 has been shown to interact with PPP2CA.[11][1]
Antagonists
References
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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- ↑ Rao PR. Identification of novel selective antagonists for Bestrophin-1 protein by homology modeling and molecular docking. International Journal of Pharmacy and Pharmaceutical Sciences 2012; 4(S4):195-200.
