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50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HTT
huntingtin
Chromosome 4 Β· 4p16.3
NCBI Gene: 3064Ensembl: ENSG00000197386.14HGNC: HGNC:4851UniProt: P42858
794PubMed Papers
22Diseases
1Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
early endosomep53 bindingphosphoprotein phosphatase activityprotein bindingHuntington diseaseLopes-Maciel-Rodan syndromeneurodegenerative diseasemajor depressive disorder
✦AI Summary

Huntingtin (HTT) is a ubiquitous protein involved in multiple cellular processes including autophagosome formation and DNA repair regulation 1. Wild-type HTT interacts with numerous cellular partners, including exonuclease 1 (Exo1) and mismatch repair protein MLH1, where it functions to suppress DNA end resection and stabilize MLH1 during DNA double-strand break repair 2. HTT also regulates palmitoylation through interactions with palmitoyl acyltransferases HIP14 and HIP14L, modulating the post-translational modification of multiple neuronal substrates 3. Huntington disease (HD) results from CAG repeat expansion in the HTT gene, producing mutant huntingtin (mHTT) with an abnormally long polyglutamine stretch 4. This polyQ expansion confers toxic functions causing protein aggregation and misfolding 4. Mechanistically, mHTT exhibits severely reduced interaction with Exo1 and MLH1, leading to MLH1 degradation, hyperactive DNA excision, DNA damage accumulation, and cGAS-STING pathway activation culminating in apoptosis 2. Additionally, the HD mutation disrupts HIP14-HTT interactions, reducing palmitoylation of HTT and other HIP14 substrates, promoting neuronal toxicity and striatal atrophy 3. Clinically, HTT lowering represents a disease-modifying strategy; the splicing modifier PTC518 achieved dose-dependent reductions in HTT mRNA (up to 60%) and protein levels (up to 35%) with favorable tolerability in healthy volunteers, supporting further clinical development 5.

Sources cited
1
HTT is ubiquitous and interacts with many partners; its wild-type function involves regulated molecular and cellular mechanisms
PMID: 26938440
2
HTT regulates DNA repair through interactions with Exo1 and MLH1; mutant HTT loses these regulatory abilities, causing DNA damage and cGAS-STING-mediated apoptosis
PMID: 38498709
3
HTT modulates HIP14-mediated palmitoylation; HD mutation disrupts this interaction, reducing palmitoylation and causing neuronal toxicity
PMID: 25849918
4
HD is caused by polyglutamine expansion in HTT, making it prone to aggregation and misfolding, conferring toxic functions
PMID: 21441583
5
PTC518, a splicing modifier lowering HTT expression, achieved dose-dependent reductions in HTT mRNA and protein with favorable safety profile
PMID: 39155237
Disease Associationsβ“˜22
Huntington diseaseOpen Targets
0.69Moderate
Lopes-Maciel-Rodan syndromeOpen Targets
0.65Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
major depressive disorderOpen Targets
0.41Moderate
juvenile Huntington diseaseOpen Targets
0.38Weak
type 2 diabetes mellitusOpen Targets
0.38Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
asthmaOpen Targets
0.32Weak
gastric cancerOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
ShockOpen Targets
0.27Weak
gastroesophageal reflux diseaseOpen Targets
0.26Weak
agingOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.25Weak
obesityOpen Targets
0.25Weak
risk-taking behaviourOpen Targets
0.24Weak
bipolar disorderOpen Targets
0.24Weak
Back painOpen Targets
0.23Weak
drug allergyOpen Targets
0.21Weak
coronary artery diseaseOpen Targets
0.19Weak
Huntington diseaseUniProt
Lopes-Maciel-Rodan syndromeUniProt
Pathogenic Variants11
NC_000004.11:g.3076606GCA[40_?]Pathogenic
Huntington disease
β˜…β˜…β˜…β˜…2014
NM_001388492.1(HTT):c.107del (p.Gln36fs)Likely pathogenic
Huntington disease
β˜…β˜†β˜†β˜†2023β†’ Residue 36
NM_001388492.1(HTT):c.99del (p.Gln33fs)Likely pathogenic
Huntington disease
β˜…β˜†β˜†β˜†2023β†’ Residue 33
NM_001388492.1(HTT):c.99_102del (p.Gln33fs)Likely pathogenic
Huntington disease
β˜…β˜†β˜†β˜†2023β†’ Residue 33
NM_001388492.1(HTT):c.2710C>T (p.Gln904Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 904
NM_001388492.1(HTT):c.2085del (p.Gly697fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 697
NM_001388492.1(HTT):c.1403-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001388492.1(HTT):c.5821_5833del (p.Ser1941fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1941
NM_001388492.1(HTT):c.8110-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)Likely pathogenic
Huntington disease
β˜…β˜†β˜†β˜†2022β†’ Residue 18
NM_001388492.1(HTT):c.8150T>A (p.Phe2717Tyr)Pathogenic
Lopes-Maciel-Rodan syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 2717
View on ClinVar β†—
Drug Targets1
TOMINERSENPhase III
Huntingtin mRNA antisense inhibitor
Huntington disease
Related Genes
UQCRHProtein interaction100%UQCRC2Protein interaction100%CYC1Protein interaction100%HSPA4Protein interaction100%HAP1Protein interaction100%F8A2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
98%
Lung
95%
Liver
67%
Ovary
62%
Heart
55%
Gene Interaction Network
Click a node to explore
HTTUQCRHUQCRC2CYC1HSPA4HAP1F8A2
PROTEIN STRUCTURE
Preparing viewer…
PDB9PMW Β· 2.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.24–0.35]
RankingsWhere HTT stands among ~20K protein-coding genes
  • #249of 20,598
    Most Researched794 Β· top 5%
  • #2,722of 5,498
    Most Pathogenic Variants11
  • #1,560of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedHTT
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
The Biology of Huntingtin.
PMID: 26938440
Neuron Β· 2016
1.00
2
Pharmacokinetics and pharmacodynamics of PTC518, an oral huntingtin lowering splicing modifier: A first-in-human study.
PMID: 39155237
Br J Clin Pharmacol Β· 2024
0.90
3
m
PMID: 39394467
EMBO Rep Β· 2024
0.88
4
Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons.
PMID: 40258535
Neurobiol Dis Β· 2025
0.82
5
Huntington's Disease.
PMID: 21441583
Cold Spring Harb Perspect Biol Β· 2011
0.80