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BESTROPHIN FAMILY
Descriptors Found:
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DeCS
Descriptor
English
:
Bestrophins
Descriptor
Spanish
:
Bestrofinas
Descriptor
Portuguese
:
Bestrofinas
Synonyms
English
:
BEST-1 Protein
BEST-2 Protein
Bestrophin Family
Bestrophin Proteins
Bestrophin-1
Bestrophin-2
BEST 1 Protein
BEST 2 Protein
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
SE
secretion
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Record Number:
57081
Unique Identifier:
D000075002
Occurrence in VHL
:
Similar:
DeCS
CID-10
LILACS