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About: Bestrophin 1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Transmission106251781, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneyago:Abstraction100002137yago:Act100030358yago:Channel106259898yago:Communication106252138yago:Event100029378yago:PsychologicalFeature100023100yago:WikicatIonChannelsyago:YagoPermanentlyLocatedEntityHumanGeneproteinyago:Transmission106251781 New Facet based on Instances of this Class

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ). The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases.