Huntingtin Protein
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.
Year introduced: 2017
PubMed search builder options
Subheadings:
Tree Number(s): D12.776.441
MeSH Unique ID: D000071058
Entry Terms:
- Huntington Disease Protein
- IT15 Protein
Previous Indexing: