Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Weill-Marchesani_syndrome
|
gptkbp:discoveredIn |
2002
|
gptkbp:encodes |
ADAMTS17 protein
|
gptkbp:Entrez_Gene_ID |
170691
|
gptkbp:expressedIn |
various tissues
|
gptkbp:family |
gptkb:ADAMTS_family
|
gptkbp:fullName |
ADAM metallopeptidase with thrombospondin type 1 motif 17
|
gptkbp:function |
extracellular matrix organization
|
gptkbp:geneType |
protein-coding
|
https://www.w3.org/2000/01/rdf-schema#label |
ADAMTS17
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
gptkbp:mutationAssociatedWith |
skeletal abnormalities
|
gptkbp:OMIM |
607511
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Adamts17
|
gptkbp:product |
metalloprotease
|
gptkbp:relatedTo |
fibrillin microfibril biogenesis
|
gptkbp:UniProtID |
Q8TE60
|
gptkbp:bfsParent |
gptkb:Weill-Marchesani_syndrome
gptkb:ADAMTS_family |
gptkbp:bfsLayer |
8
|