TWNK

URI: https://gptkb.org/entity/TWNK

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:C10orf2 gptkb:Twinkle
gptkbp:associatedWith	gptkb:hepatocerebral_syndrome gptkb:infantile-onset_spinocerebellar_ataxia gptkb:mitochondrial_DNA_depletion_syndrome gptkb:progressive_external_ophthalmoplegia
gptkbp:discoveredBy	gptkb:Maria_Spelbrink
gptkbp:encodes	gptkb:Twinkle_protein
gptkbp:Entrez_Gene_ID	56654
gptkbp:expressedIn	mitochondria
gptkbp:function	gptkb:mitochondrial_DNA_helicase
https://www.w3.org/2000/01/rdf-schema#label	TWNK
gptkbp:locatedOnChromosome	10q24
gptkbp:mutationAssociatedWith	mitochondrial dysfunction
gptkbp:OMIM	606075
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:product	gptkb:Twinkle_protein
gptkbp:UniProtID	Q96RR1
gptkbp:bfsParent	gptkb:Hostess_Brands_(2023) gptkb:Hostess_Brands
gptkbp:bfsLayer	7