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HTT - huntingtin
- Synonym(s) : IT15
- Previous symbols and names : HD, Huntingtin (Huntington disease), huntingtin (Huntington disease)
- Type : gene with protein product
- Chromosomal location : 4p16.3
- OMIM: 613004
- HGNC: 4851
- UniProtKB: P42858
- Genatlas: HTT
- GenCC: HTT
- Ensembl: ENSG00000197386
- IUPHAR-DB: -
- Reactome: P42858
- LOVD: HTT
Diseases list
- Disease-causing germline mutation(s) in Juvenile Huntington disease
ORPHA:248111 
- Disease-causing germline mutation(s) in Non-specific syndromic intellectual disability
ORPHA:528084 - Disease-causing germline mutation(s) (gain of function) in Huntington disease
ORPHA:399
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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