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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): Huntington Disease Protein
IT15 Protein
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 & 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
DF deficiency
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
Previous Indexing: Nerve Tissue Proteins (2012-2016)
Nuclear Proteins (1994-2016)
Public MeSH Note: 2017
History Note: 2017
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
Huntingtin Protein - Preferred
Concept UI M000612972
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.
Preferred term Huntingtin Protein
Entry term(s) Huntington Disease Protein
IT15 Protein



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