Search on: BESTROPHINS 
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Descriptor English:   Bestrophins 
Descriptor Spanish:   Bestrofinas 
Descriptor Portuguese:   Bestrofinas 
Synonyms English:   BEST 1 Protein
BEST 2 Protein
BEST-1 Protein
BEST-2 Protein
Bestrophin 1
Bestrophin 2
Bestrophin Family
Bestrophin Proteins
Bestrophin-1
Bestrophin-2  
Tree Number:   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
Definition English:   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 English:   2018 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   57081 
Unique Identifier:   D000075002 

Occurrence in VHL:
 
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