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Descriptor English: Huntingtin Protein
Descriptor Spanish: Proteína Huntingtina
Descriptor proteína huntingtina
Entry term(s) huntingtina
proteína IT15
proteína de la enfermedad de Huntington
proteína huntingtin
Scope note: Proteína altamente expresada en el sistema nervioso y otros tejidos. Su tamaño y estructura varían debido a los polimorfismos. Se han identificado REPETICIONES DE TRINUCLEÓTIDOS CAG expandidas en el gen de la huntingtina en pacientes con ENFERMEDAD DE HUNTINGTON, que se asocian a AGREGADOS DE PROTEÍNAS anormales. La huntingtina interacciona con proteínas implicadas en diversos procesos celulares y de expresión génica. También es esencial para el desarrollo embrionario.
Descriptor Portuguese: Proteína Huntingtina
Descriptor French: Protéine huntingtine
Entry term(s): Huntingtine
Protéine IT15
Protéine de la maladie de Huntington
Tree number(s): D12.776.441
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000071058
Scope note: A protein that is highly expressed in the nervous system as well as other tissues; its size and structure vary due to polymorphisms. Expanded CAG TRINUCLEOTIDE REPEATS have been identified in the Huntingtin (HD) Gene of patients with HUNTINGTON DISEASE and are associated with abnormal PROTEIN AGGREGATES. Huntingtin interacts with proteins involved in a variety of gene expression and cellular processes; it is also essential for embryonic development.
Allowable Qualifiers: AD administration et posologie
AE effets indésirables
AG agonistes
AI antagonistes et inhibiteurs
AN analyse
BI biosynthèse
BL sang
CF liquide cérébrospinal
CH composition chimique
CL classification
CS synthèse chimique
DE effets des médicaments et des substances chimiques
DF déficit
EC économie
GE génétique
HI histoire
IM immunologie
IP isolement et purification
ME métabolisme
PD pharmacologie
PH physiologie
PK pharmacocinétique
PO intoxication
RE effets des radiations
SD ressources et distribution
ST normes
TO toxicité
TU usage thérapeutique
UL ultrastructure
UR urine
DeCS ID: 56634
Unique ID: D000071058
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2017/01/01
Date of Entry: 2016/07/08
Revision Date: 2016/02/26
Protéine huntingtine - Preferred
Concept UI M000612972
Preferred term Protéine huntingtine
Entry term(s) Huntingtine
Protéine IT15
Protéine de la maladie de Huntington



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