Search on: SURVIVAL OF MOTOR NEURON 1 PROTEIN 
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Descriptor English:   Survival of Motor Neuron 1 Protein 
Descriptor Spanish:   Proteína 1 para la Supervivencia de la Neurona Motora 
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:
 

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