LGI1

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:antibodyAssociatedWith autoimmune encephalitis
gptkbp:associatedWith epilepsy
autosomal dominant lateral temporal lobe epilepsy
limbic encephalitis
gptkbp:discoveredBy Ottman et al.
gptkbp:encodes leucine-rich, glioma inactivated 1 protein
gptkbp:expressedIn brain
gptkbp:firstDescribed 1998
gptkbp:fullName leucine-rich, glioma inactivated 1
gptkbp:function synaptic transmission regulation
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 13854
https://www.w3.org/2000/01/rdf-schema#label LGI1
gptkbp:interactsWith ADAM22
ADAM23
gptkbp:length 8 exons
gptkbp:locatedOnChromosome 10q24
gptkbp:mutationAssociatedWith seizures
gptkbp:OMIM 604619
gptkbp:orthologInMouse Lgi1
gptkbp:proteinFamily leucine-rich repeat proteins
gptkbp:UniProtID O95970
gptkbp:bfsParent gptkb:LGI1_gene_family
gptkbp:bfsLayer 7