HTT gene
E730391
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| HTT | 0 |
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | gene ⓘ |
| alternativeName |
IT15
ⓘ
huntingtin (Huntington disease) gene NERFINISHED ⓘ |
| associatedWith | Huntington's disease NERFINISHED ⓘ |
| cellularLocation |
cytoplasm
ⓘ
nucleus ⓘ |
| chromosomalBand | 4p16.3 ⓘ |
| discoveredBy | Huntington's Disease Collaborative Research Group NERFINISHED ⓘ |
| discoveryYear | 1993 ⓘ |
| encodes | huntingtin protein NERFINISHED ⓘ |
| EnsemblGeneID | ENSG00000197386 ⓘ |
| EntrezGeneID | 3064 ⓘ |
| expandedCAGRepeatLeadsTo |
protein aggregation
ⓘ
toxic gain of function ⓘ |
| expressedIn |
brain
ⓘ
neurons ⓘ |
| fullName | huntingtin NERFINISHED ⓘ |
| geneFamily | polyglutamine disease genes ⓘ |
| geneType | single-copy gene ⓘ |
| hasMouseOrtholog | Htt NERFINISHED ⓘ |
| hasMutationType | CAG trinucleotide repeat expansion ⓘ |
| hasReferenceProteinSequence | NP_002102 ⓘ |
| hasReferenceSequence | NM_002111 ⓘ |
| hasRepeatRegion | polyglutamine tract ⓘ |
| hasRepeatUnit | CAG ⓘ |
| HGNCID | HGNC:4851 ⓘ |
| highExpressionIn |
cortex
ⓘ
striatum ⓘ |
| inheritancePatternOfAssociatedDisease | autosomal dominant ⓘ |
| interactsWith |
HAP1
ⓘ
REST NERFINISHED ⓘ dynein motor complex ⓘ |
| locatedOnChromosome | chromosome 4 ⓘ |
| mouseHttKnockoutPhenotype | embryonic lethality ⓘ |
| mutationCauses | Huntington's disease NERFINISHED ⓘ |
| normalCAGRepeatRange | about 10–35 repeats ⓘ |
| OMIMID | 613004 ⓘ |
| organism | Homo sapiens NERFINISHED ⓘ |
| participatesIn |
axonal transport
ⓘ
cell survival pathways ⓘ transcriptional regulation ⓘ vesicle trafficking ⓘ |
| pathogenicCAGRepeatThreshold | about 36 or more repeats ⓘ |
| pathogenicMechanismInDisease | neurodegeneration of medium spiny neurons ⓘ |
| proteinLength | 3144 amino acids ⓘ |
| UniProtID | P42858 ⓘ |
| usedIn | genetic testing for Huntington's disease ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.