Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
DYT1
torsinA |
| gptkbp:associatedWith |
DYT1 dystonia
|
| gptkbp:discoveredBy |
Ozelius et al.
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
Torsin-1A protein
|
| gptkbp:Entrez_Gene_ID |
1861
ENSG00000163918 |
| gptkbp:expressedIn |
brain
heart liver |
| gptkbp:fullName |
torsin family 1 member A
|
| gptkbp:function |
involved in endoplasmic reticulum function
involved in nuclear envelope dynamics |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:12030
|
| https://www.w3.org/2000/01/rdf-schema#label |
TOR1A
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
9
|
| gptkbp:location |
9q34.11
|
| gptkbp:mutationAssociatedWith |
causes early-onset primary dystonia
ΔE302/303 deletion |
| gptkbp:OMIM |
605204
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Tor1a
|
| gptkbp:proteinFamily |
AAA+ ATPase
|
| gptkbp:RefSeq |
NM_000113
|
| gptkbp:significance |
pathogenic mutations cause dystonia
|
| gptkbp:UniProtID |
O14656
|
| gptkbp:bfsParent |
gptkb:chromosome_9q34
|
| gptkbp:bfsLayer |
7
|