- 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.
- Terms
-
Huntingtin Protein
Preferred Term
Term UI
T000892536
Date12/23/2015
LexicalTag
NON
ThesaurusID
NLM (2017)
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Huntington Disease Protein
Term UI
T000892538
Date12/23/2015
LexicalTag
NON
ThesaurusID
NLM (2017)
-
IT15 Protein
Term UI
T000892539
Date12/23/2015
LexicalTag
ABX
ThesaurusID
NLM (2017)