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IT15 PROTEIN
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DeCS
Descriptor
English
:
Huntingtin Protein
Descriptor
Spanish
:
Proteína Huntingtina
Descriptor
Portuguese
:
Proteína Huntingtina
Synonyms
English
:
Huntington Disease Protein
IT15 Protein
Tree Number:
D12.776.441
Definition
English
:
A protein that is highly expressed in the
nervous system
as well as other
tissues
; its size and structure vary due to polymorphisms. Expanded CAG
TRINUCLEOTIDE REPEATS
have been identified in the Huntingtin (HD) Gene of
patients
with
HUNTINGTON DISEASE
and are associated with abnormal
PROTEIN AGGREGATES
. Huntingtin interacts with
proteins
involved in a variety of
gene expression
and cellular processes; it is also essential for
embryonic development.
History Note
English
:
2017
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:
56634
Unique Identifier:
D000071058
Occurrence in VHL
:
Similar:
DeCS
CID-10
LILACS