Huntingtin
Sign in to saveAlso known as HTT, HD protein, huntington disease protein, Htt1
Huntingtin (Htt) is a human protein encoded by the HTT gene, also known as IT15 ("interesting transcript 15"). Pathogenic expansions in HTT (disease-causing repeat length increases) cause Huntington's disease (HD), and the protein has also been implicated in mechanisms of long-term memory storage.
Protein · UniProt
Huntingtin
- Gene
- HTT
- Organism
- Homo sapiens (Human)
- Length
- 3,142 aa
- Molecular mass
- 347,603 Da
- Evidence
- 1: Evidence at protein level
May play a role in microtubule-mediated transport or vesicle function
Swiss-Prot (reviewed) · via UniProt
Clinical Trials
15 registered- PHASE1/PHASE2ACTIVE_NOT_RECRUITINGSafety and Proof-of-Concept (POC) Study With AMT-130 in Adults With Early Manifest Huntington's DiseaseUniQure Biopharma B.V. · NCT04120493
- PHASE2COMPLETEDA Trial of Memantine as Symptomatic Treatment for Early Huntington DiseaseUniversity of British Columbia · NCT01458470
- PHASE1COMPLETEDStudy to Measure Cerebrospinal Fluid Mutant Huntingtin Protein in Participants With Early Manifest Stage I or Stage II Huntington's DiseaseHoffmann-La Roche · NCT03664804
- RECRUITINGExtracellular Vesicles for HDUniversity of Central Florida · NCT06082713
- PHASE2RECRUITINGA Randomised Controlled Trial, Of N-Acetyl Cysteine (NAC), for Premanifest Huntingtin Gene Expansion CarriersWestern Sydney Local Health District · NCT05509153
- PHASE2/PHASE3ACTIVE_NOT_RECRUITINGStudy of SKY-0515 for Safety, Efficacy, and Pharmacodynamics in Participants With Huntington's DiseaseSkyhawk Therapeutics, Inc. · NCT06873334
~12 min read
Encyclopedic overview
11 sectionsContents
- Gene
- Structure
- Function
- Interactions
- Clinical significance
- Huntington's disease
- Mitochondrial dysfunction
- See also
- References
- Further reading
- External links
Huntingtin (Htt) is a human protein encoded by the HTT gene, also known as IT15 ("interesting transcript 15"). Pathogenic expansions in HTT (disease-causing repeat length increases) cause Huntington's disease (HD), and the protein has also been implicated in mechanisms of long-term memory storage.
HTT is expressed in many tissues, with the highest levels in the brain. Expression is developmentally regulated and required for embryogenesis. Huntingtin normally consists of 3,144 amino acids and has a predicted mass of ~350 kDa, depending on the length of its polyglutamine tract. Polymorphisms in HTT alter the number of glutamine residues: the wild-type allele encodes 6–35 repeats, whereas pathogenic expansions in HD exceed 36, with severe juvenile cases reaching ~250 repeats. The name huntingtin reflects this association with disease; IT15 was its earlier designation.
Excerpted from Wikipedia’s “Huntingtin” article, available under the CC BY-SA 4.0 licence.