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MFN=57068
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DeCS
Descriptor
English
:
C9orf72 Protein
Descriptor
Spanish
:
proteína C9orf72
Descriptor
Portuguese
:
Proteína C9orf72
Synonyms
English
:
Chromosome 9 Open Reading Frame 72 Protein
Tree Number:
D12.776.141
Definition
English
:
A widely-expressed protein of approximately 400 to 500
amino acids
. Its N-terminal region (DENN domain) interacts with
RAB GTP-BINDING PROTEINS
and may regulate
AUTOPHAGY
, as well as
PROTEIN TRANSPORT
to
ENDOSOMES
. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with
FRONTOTEMPORAL DEMENTIA
with
AMYOTROPHIC LATERAL SCLEROSIS
(FTDALS1).
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:
57068
Unique Identifier:
D000073885
Occurrence in VHL
:
Similar:
DeCS