Concept information
Preferred term
Huntingtin Protein
Type
-
Topical Descriptor
Broader concept
Entry terms
- Huntington Disease Protein
- IT15 Protein
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.
History note
- 2017
In other languages
-
Finnish
-
huntingtiini-proteiini
-
Swedish
-
Huntingtons sjukdomsprotein
URI
http://www.yso.fi/onto/mesh/D000071058
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}