Huntingtin - CISMeF

Preferred Label : Huntingtin;

NCIt synonyms : HD Protein; Huntington Disease Protein;

NCIt definition : Huntingtin (3144 aa, 348 kDa) is encoded by the human HTT gene. This protein may be involved in the regulation of vesicular transport.;

Details

Origin ID

C88920;

UMLS CUI

C0252274;

OMIM relation
- Huntingtin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- HTT protein, human [MeSH concept]
- HTT protein, human [MeSH Supplementary Concept]
gene_encodes_gene_product
- HTT Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_is_element_in_pathway
- Huntington's Disease Pathway [NCIt concept]
- Inhibition of Huntington's Disease Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Huntington's Disease [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
- Tubulin Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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