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Concept information

Preferred term

Huntingtin Protein  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

  • Huntington Disease Protein
  • IT15 Protein

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-ZT4R2BQZ-9

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RDF/XML TURTLE JSON-LD Created 7/8/16, last modified 2/26/16