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TRANSCRIPTION FACTOR, MICROPHTHALMIA-ASSOCIATED
Descriptors Found:
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DeCS
Descriptor
English
:
Microphthalmia-Associated Transcription Factor
Descriptor
Spanish
:
Factor de Transcripción Asociado a Microftalmía
Descriptor
Portuguese
:
Fator de Transcrição Associado à Microftalmia
Synonyms
English
:
MITF Protein
MITF Transcription Factor
Microphthalmia Associated Transcription Factor
Microphthalmia, Transcription Factor
Transcription Factor Microphthalmia
Transcription Factor, Microphthalmia-Associated
Tree Number:
D12.776.260.103.500.500
D12.776.260.108.092.500
D12.776.930.125.500.500
D12.776.930.127.092.500
Definition
English
:
A basic helix-loop-helix
leucine
zipper transcription factor that regulates the
CELL DIFFERENTIATION
and development of a variety of cell types including
MELANOCYTES
;
OSTEOCLASTS
; and
RETINAL PIGMENT EPITHELIUM
.
Mutations
in MITF protein have been associated with
OSTEOPETROSIS
and
WAARDENBURG SYNDROME.
History Note
English
:
2006(1993)
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:
50944
Unique Identifier:
D051739
Occurrence in VHL
:
Similar:
DeCS