HGNC:5464

URI: https://gptkb.org/entity/HGNC:5464

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:FBN gptkb:FBN1_HUMAN gptkb:MFS1 gptkb:SMLS
gptkbp:associatedWith	gptkb:Ectopia_lentis gptkb:Marfan_syndrome Weill-Marchesani syndrome 2
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000166147 2200
gptkbp:fullName	gptkb:fibrillin_1
gptkbp:gene	gptkb:FBN1
gptkbp:locatedOnChromosome	15
gptkbp:location	gptkb:extracellular_matrix
gptkbp:locusType	15q21.1
gptkbp:OMIM	134797
gptkbp:proteinFamily	gptkb:fibrillin_family
gptkbp:RefSeq	NM_000138
gptkbp:species	gptkb:Homo_sapiens
gptkbp:UniProtID	gptkb:P35555
gptkbp:bfsParent	gptkb:IGFBP3 gptkb:insulin-like_growth_factor_1 gptkb:IGF1_gene
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	HGNC:5464