Bestrophins

Bestrofiner

Engelsk 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.

Svenska synonymer

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Engelska synonymer

Bestrophin Proteins Bestrophin Family Bestrophin Bestrophin-1 Bestrophin 1 BEST-1 Protein BEST 1 Protein Bestrophin-2 Bestrophin 2 BEST-2 Protein BEST 2 Protein