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Descriptor English: Bestrophins
Descriptor Spanish: Bestrofinas
Descriptor bestrofinas
Entry term(s) bestrofina
bestrofina 1
bestrofina 2
familia de las bestrofinas
proteína BEST-1
proteína BEST-2
proteínas bestrofinas
Scope note: Familia de proteínas caracterizada por una región N-terminal altamente conservada y por entre cuatro y seis hélices transmembranarias. Actúan como canal de cloruro activado por calcio, permeable al bicarbonato. La bestrofina-1 (BEST-1) y bestrofina-2 se expresan ampliamente en las células del EPITELIO PIGMENTADO DE LA RETINA y las mutaciones del gen BEST-1 se asocian a DISTROFIA MACULAR VITELIFORME TIPO 2.
Descriptor Portuguese: Bestrofinas
Descriptor French: Bestrophines
Entry term(s): BEST 1 Protein
BEST 2 Protein
BEST-1 Protein
BEST-2 Protein
Bestrophin
Bestrophin 1
Bestrophin 2
Bestrophin Family
Bestrophin Proteins
Bestrophin-1
Bestrophin-2
Tree number(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000075002
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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Chloride Channels (1999-2017)
Eye Proteins (1999-2017)
Public MeSH Note: 2018
History Note: 2018
DeCS ID: 57081
Unique ID: D000075002
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2017/05/22
Bestrophins - Preferred
Concept UI M000628883
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.
Preferred term Bestrophins
Entry term(s) Bestrophin
Bestrophin Family
Bestrophin Proteins
Bestrophin-1 - Narrower
Concept UI M000628886
Preferred term Bestrophin-1
Entry term(s) BEST 1 Protein
BEST-1 Protein
Bestrophin 1
Bestrophin-2 - Narrower
Concept UI M000628887
Preferred term Bestrophin-2
Entry term(s) BEST 2 Protein
BEST-2 Protein
Bestrophin 2



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