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Descriptor English: Survival of Motor Neuron 1 Protein
Descriptor Spanish: Proteína 1 para la Supervivencia de la Neurona Motora
Descriptor proteína 1 de supervivencia de las motoneuronas
Scope note: Proteína del complejo SMN que contiene un DOMINIO TUDOR y es esencial para la función del complejo proteico SMN. En los seres humanos, la proteína es codificada por un único gen que se encuentra cerca del TELÓMERO de una gran región invertida del CROMOSOMA 5. Las mutaciones en el gen que codifica para la proteína 1 de supervivencia de las neuromotoras pueden dar lugar a ATROFIAS MUSCULARES ESPINALES DE LA INFANCIA.
Descriptor Portuguese: Proteína 1 de Sobrevivência do Neurônio Motor
Descriptor French: Protéine-1 de survie du motoneurone
Entry term(s): SMN Protein (Spinal Muscular Atrophy)
Survival Motor Neuron Protein 1
Survival of Motor Neuron 1, Telomeric Protein
Tree number(s): D12.776.157.725.875.500
D12.776.580.922.500
D12.776.664.962.875.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D055533
Scope note: 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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Entry Combination: deficiency:Spinal Muscular Atrophies of Childhood
Previous Indexing: SMN Complex Proteins (2005-2008)
Public MeSH Note: 2009; SURVIVAL OF MOTOR NEURON 1 PROTEIN was indexed under NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; & CYCLIC-AMP RESPONSE ELEMENT-BINDING PROTEIN 2005-2008
History Note: 2009(2005); use SMN COMPLEX PROTEINS 2005-2008
DeCS ID: 53164
Unique ID: D055533
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2009/01/01
Date of Entry: 2008/07/08
Revision Date: 2016/05/27
Survival of Motor Neuron 1 Protein - Preferred
Concept UI M0360401
Scope note 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.
Preferred term Survival of Motor Neuron 1 Protein
Entry term(s) SMN Protein (Spinal Muscular Atrophy)
Survival Motor Neuron Protein 1
Survival of Motor Neuron 1, Telomeric Protein



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