Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:fibrillin-1
|
| gptkbp:associatedWith |
gptkb:Marfan_syndrome
|
| gptkbp:encodedBy |
gptkb:FBN1_gene
|
| gptkbp:function |
extracellular matrix structural component
|
| https://www.w3.org/2000/01/rdf-schema#label |
Marfan syndrome protein
|
| gptkbp:locatedOnChromosome |
15q21.1
|
| gptkbp:location |
extracellular matrix
|
| gptkbp:mutationAssociatedWith |
connective tissue disorder
|
| gptkbp:OMIM |
134797
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:Fbn1
|
| gptkbp:bfsLayer |
8
|