Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:IT15
|
| gptkbp:associatedWith |
gptkb:Huntington's_disease
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
gptkb:huntingtin_protein
|
| gptkbp:Entrez_Gene_ID |
3064
|
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:fullName |
huntingtin
|
| gptkbp:function |
involved in neuronal function
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
4851
|
| https://www.w3.org/2000/01/rdf-schema#label |
HTT
|
| gptkbp:length |
3144 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:mutationAssociatedWith |
cognitive decline
neurodegeneration CAG trinucleotide repeat expansion motor dysfunction |
| gptkbp:OMIM |
613004
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Htt
|
| gptkbp:orthologInZebrafish |
htt
|
| gptkbp:recurrence |
gptkb:polyglutamine_(polyQ)
|
| gptkbp:repeatRegion |
exon 1
|
| gptkbp:UniProtID |
P42858
|
| gptkbp:bfsParent |
gptkb:chromosome_4
gptkb:Intel_Hyper-Threading |
| gptkbp:bfsLayer |
6
|