Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:HTT
gptkb:IT15 |
| gptkbp:associatedWith |
gptkb:Huntington's_disease
|
| gptkbp:discoveredBy |
Group of researchers led by James F. Gusella
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
gptkb:huntingtin_protein
|
| gptkbp:Entrez_Gene_ID |
3064
ENSG00000197386 |
| gptkbp:fullName |
Huntingtin gene
|
| gptkbp:function |
involved in neuronal function
|
| https://www.w3.org/2000/01/rdf-schema#label |
HCAG
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:length |
3144 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
causes neurodegeneration |
| gptkbp:OMIM |
613004
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:RefSeq |
NM_002111
|
| gptkbp:UniProtID |
P42858
|
| gptkbp:bfsParent |
gptkb:Lagalo_Airport
|
| gptkbp:bfsLayer |
7
|