Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:PINK1
|
gptkbp:associatedWith |
gptkb:Parkinson's_disease
|
gptkbp:discoveredIn |
2001
|
gptkbp:encodes |
gptkb:PTEN-induced_kinase_1
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
gptkbp:function |
mitochondrial quality control
|
https://www.w3.org/2000/01/rdf-schema#label |
PARK6
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_1p36
|
gptkbp:mutationAssociatedWith |
gptkb:early-onset_Parkinson's_disease
nonsense missense frameshift |
gptkbp:OMIM |
608309
|
gptkbp:orthologInDrosophila |
gptkb:Pink1
|
gptkbp:orthologInMouse |
gptkb:Pink1
|
gptkbp:pathway |
autophagy
mitophagy cellular response to stress |
gptkbp:product |
serine/threonine kinase
|
gptkbp:UniProtID |
gptkb:Q9BXM7
|
gptkbp:bfsParent |
gptkb:PINK1
|
gptkbp:bfsLayer |
7
|