" /> Bestrophins - CISMeF





Preferred Label : Bestrophins;

MeSH definition : A protein family characterized by a highly conserved N-terminus and four to six transmembrane helices; they function as bicarbonate permeable, calcium-activated chloride channels. Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM MACULAR DYSTROPHY, TYPE 2.;

MeSH synonym : Bestrophin Proteins; Bestrophin Family; Bestrophin;

DeCS synonym : Bestrophin-2; Bestrophin-1;

MeSH hyponym : Bestrophin 1; BEST-1 Protein; BEST 1 Protein; Bestrophin 2; BEST-2 Protein; BEST 2 Protein;

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A protein family characterized by a highly conserved N-terminus and four to six transmembrane helices; they function as bicarbonate permeable, calcium-activated chloride channels. Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM MACULAR DYSTROPHY, TYPE 2.

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03/05/2025


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