Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1gene (RPD ID - 5T5N/4RDQ).[5]
Calcium-activated chloride channel bestrophin-1 (BEST1), triple mutant: I76A, F80A, F84A; in complex with an Fab antibody fragment, chloride, and calcium. Secondary structure of biological assembly 1 viewed via front C5 axis orientation. From RCSB PDB.
The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins.[6] This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD).[7] Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases.[7]
The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans. In humans, they function as calcium-activated anion channels, each of which has a unique tissue distribution throughout the body. Specifically, the BEST1 gene on chromosome 11q13 encodes the Bestrophin-1 protein in humans whose expression is highest in the retina.[7]