Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:mitochondrial_DNA_helicase
C10orf2 protein |
| gptkbp:associatedWith |
gptkb:hepatocerebral_syndrome
gptkb:progressive_external_ophthalmoplegia gptkb:mitochondrial_myopathy mitochondrial DNA replication |
| gptkbp:biologicalProcess |
ATP-dependent DNA unwinding
|
| gptkbp:discoveredBy |
gptkb:Maria_Spelbrink
|
| gptkbp:encodedBy |
TWNK gene
|
| gptkbp:foundIn |
mitochondria
|
| gptkbp:function |
gptkb:mitochondrial_DNA_helicase
|
| https://www.w3.org/2000/01/rdf-schema#label |
Twinkle protein
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10
|
| gptkbp:mutationAssociatedWith |
mitochondrial DNA deletions
|
| gptkbp:OMIM |
606075
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:species |
gptkb:human
|
| gptkbp:structure |
hexameric ring
|
| gptkbp:UniProtID |
Q96RM1
|
| gptkbp:bfsParent |
gptkb:TWNK
|
| gptkbp:bfsLayer |
8
|