Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:Twinkle
PEO1 |
| gptkbp:associatedWith |
gptkb:hepatocerebral_syndrome
gptkb:mitochondrial_DNA_depletion_syndrome gptkb:progressive_external_ophthalmoplegia |
| gptkbp:biologicalProcess |
DNA helicase activity
|
| gptkbp:encodes |
Twinkle mitochondrial DNA helicase
|
| gptkbp:Entrez_Gene_ID |
56655
|
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:function |
mitochondrial DNA maintenance
mitochondrial DNA replication |
| gptkbp:HGNC_ID |
HGNC:16861
|
| https://www.w3.org/2000/01/rdf-schema#label |
C10orf2
|
| gptkbp:length |
684 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10
|
| gptkbp:mutationAssociatedWith |
multiple mtDNA deletions
|
| gptkbp:OMIM |
606075
|
| gptkbp:orthologInMouse |
gptkb:Twinkle
|
| gptkbp:bfsParent |
gptkb:chromosome_10
|
| gptkbp:bfsLayer |
6
|