protein 962 words KG: HUNTINGTINPROTEIN 2026-03-23
kind:proteinsection:proteinsstate:published
Contents

Huntingtin (HTT) Protein

🔬 Protein Info
Gene SymbolHUNTINGTIN
Full NameHuntingtin (HTT)
AliasesHUNTINGTINPROTEIN
Protein FamilyHuntingtin protein family
Protein TypeProtein
Functionis a large protein encoded by the HTT gene, most famous for its role in Huntington's disease where CAG repeat expansion in the first exon leads to mutant huntingtin (mHTT).
Subcellular LocalizationCytoplasm, nucleus, synapses
Molecular Weight350 kDa
Amino Acids144 aa
PathwaysNF-κB
UniProt IDSearch UniProt
GeneCardsHUNTINGTIN
Human Protein AtlasHUNTINGTIN
GeneHTT
PDB3IO4, 6ZFR
Associated DiseasesALS, Aging, Alzheimer, Amyotrophic Lateral Sclerosis, Ataxia
Known Drugs/CompoundsRAPAMYCIN
InteractionsCGAS, STING, MTOR, LC3, HTT, BDNF
KG Connections691 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph