Fbn1

URI: https://gptkb.org/entity/Fbn1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:Fibrillin-1 gptkb:Marfan_syndrome_protein gptkb:FBN
gptkbp:associatedWith	gptkb:Marfan_syndrome
gptkbp:encodes	gptkb:fibrillin-1
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000166147 2200
gptkbp:expressedIn	gptkb:skeletal_muscle
gptkbp:function	extracellular matrix structural constituent
gptkbp:HGNC_ID	gptkb:HGNC:3603
https://www.w3.org/2000/01/rdf-schema#label	Fbn1
gptkbp:locatedOnChromosome	15q21.1
gptkbp:mutationAssociatedWith	gptkb:Weill-Marchesani_syndrome gptkb:ectopia_lentis aortic aneurysm
gptkbp:OMIM	134797
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:orthologInMouse	gptkb:Fbn1
gptkbp:product	gptkb:fibrillin-1
gptkbp:UniProtID	gptkb:P35555
gptkbp:bfsParent	gptkb:FBN1_gene gptkb:FBN1
gptkbp:bfsLayer	7