Concept information
Preferred term
Bestrophins
Type
-
Topical Descriptor
Broader concept
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
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000075002
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