GNE

URI: https://gptkb.org/entity/GNE
GPTKB entity
Statements (28)
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
https://www.w3.org/2000/01/rdf-schema#label GNE
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:Ghent_Airport
gptkb:Genie_Energy
gptkb:Genesis_Energy
gptkbp:bfsLayer 7