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Concept information

Preferred term

Bestrophins  

Type

  • Topical Descriptor

Entry terms

  • Bestrophin
  • Bestrophin Family
  • Bestrophin Proteins

Scope note

  • 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.

History note

  • 2018

In other languages

URI

http://www.yso.fi/onto/mesh/D000075002

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