HGNC:4867

URI: https://gptkb.org/entity/HGNC:4867

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:FBN gptkb:MFS1 SHT
gptkbp:associatedWith	gptkb:Ectopia_lentis gptkb:Weill-Marchesani_syndrome gptkb:Marfan_syndrome
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000166147 2200
gptkbp:fullName	gptkb:fibrillin_1
gptkbp:function	structural component of microfibrils
gptkbp:gene	gptkb:FBN1
gptkbp:HGNC_ID	4867
gptkbp:locatedOnChromosome	15
gptkbp:location	gptkb:extracellular_matrix
gptkbp:locusType	15q21.1
gptkbp:OMIM	134797
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:proteinFamily	gptkb:fibrillin_family
gptkbp:RefSeq	NM_000138
gptkbp:UniProtID	gptkb:P35555
gptkbp:bfsParent	gptkb:Herc2
gptkbp:bfsLayer	8
http://www.w3.org/2000/01/rdf-schema#label	HGNC:4867