GNE

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

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:UDP-GlcNAc_2-epimerase/ManNAc_kinase gptkb:UDP-N-acetylglucosamine_2-epimerase/N-acetylmannosamine_kinase
gptkbp:associatedWith	gptkb:hereditary_inclusion_body_myopathy gptkb:sialuria
gptkbp:discoveredBy	B. Eisenberg et al.
gptkbp:encodes	gptkb:bifunctional_UDP-N-acetylglucosamine_2-epimerase/N-acetylmannosamine_kinase
gptkbp:Entrez_Gene_ID	10020
gptkbp:expressedIn	gptkb:skeletal_muscle gptkb:kidney heart liver
gptkbp:firstDescribed	2001
gptkbp:fullName	gptkb:glucosamine_(UDP-N-acetyl)-2-epimerase/N-acetylmannosamine_kinase
gptkbp:function	catalyzes the first two steps in sialic acid biosynthesis
gptkbp:geneType	protein-coding
gptkbp:HGNC_ID	HGNC:4446
gptkbp:locatedOnChromosome	gptkb:chromosome_9
gptkbp:mutationAssociatedWith	causes sialuria causes muscle weakness in hereditary inclusion body myopathy
gptkbp:OMIM	603824
gptkbp:orthologInMouse	gptkb:Gne
gptkbp:UniProtID	Q9Y223
gptkbp:bfsParent	gptkb:Genie_Energy gptkb:Genesis_Energy
gptkbp:bfsLayer	7
http://www.w3.org/2000/01/rdf-schema#label	GNE