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ATAXIA PROTEINS, SPINOCEREBELLAR
Descriptors Found:
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DeCS
Descriptor
English
:
Ataxins
Descriptor
Spanish
:
Ataxinas
Descriptor
Portuguese
:
Ataxinas
Synonyms
English
:
Ataxin Proteins
Spinocerebellar Ataxia Proteins
Ataxia Proteins, Spinocerebellar
Proteins, Ataxin
Proteins, Spinocerebellar Ataxia
Tree Number:
D12.776.631.069
D12.776.660.075
Definition
English
:
A
family
of predominantly
nuclear proteins
that regulate gene transcription and protein degradation. The expansion of CAG
trinucleotide repeats
in genes that encode
Ataxins
is associated with
SPINOCEREBELLAR ATAXIAS
(SCA). In SCA
patients
, the number of CAG repeats correlates with the severity of
disease
and inversely correlates with the age of
disease
onset.
See Related
English
:
Spinocerebellar Ataxias
History Note
English
:
2016
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:
56001
Unique Identifier:
D000067528
Occurrence in VHL
:
Similar:
DeCS
CID-10
LILACS