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SMN PROTEIN (SPINAL MUSCULAR ATROPHY)
Descriptors Found:
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DeCS
Descriptor
English
:
Survival of Motor Neuron 1 Protein
Descriptor
Spanish
:
proteína 1 de supervivencia de las motoneuronas
Descriptor
Portuguese
:
Proteína 1 de Sobrevivência do Neurônio Motor
Synonyms
English
:
SMN Protein (Spinal Muscular Atrophy)
Survival Motor Neuron Protein 1
Survival of Motor Neuron 1, Telomeric Protein
Tree Number:
D12.776.157.725.875.500
D12.776.580.922.500
D12.776.664.962.875.500
Definition
English
:
An SMN complex protein that contains a
TUDOR DOMAIN
and is essential for the function of the SMN protein complex. In
humans
, the protein is encoded by a single gene found near the inversion
TELOMERE
of a large inverted region of
CHROMOSOME 5
.
Mutations
in the gene coding for
survival of motor neuron 1 protein
may result in
SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Entry Combination - descr/qualif
English
:
Survival of Motor Neuron 1 Protein
/
deficiency
use
Spinal Muscular Atrophies of Childhood
History Note
English
:
2009(2005); use SMN COMPLEX PROTEINS 2005-2008
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
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:
53164
Unique Identifier:
D055533
Occurrence in VHL
:
Similar:
DeCS