D000075002Level 8
Bestrophins
**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.
**Tree numbers:** - D12.776.157.530.400.175.063 - D12.776.306.228 - D12.776.543.550.450.175.063 - D12.776.543.585.400.175.063
**Synonyms:** - Bestrophin - Bestrophin Family - Bestrophin Proteins
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