SCN8A

URI: https://gptkb.org/entity/SCN8A
GPTKB entity
Statements (21)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:NaV1.6
gptkb:Nav1.6
gptkb:sodium_channel,_voltage-gated,_type_VIII,_alpha_subunit
gptkbp:associatedWith gptkb:Epilepsy
gptkb:intellectual_disability
movement disorders
gptkbp:encodes gptkb:Nav1.6
gptkbp:Entrez_Gene_ID 6334
gptkbp:expressedIn central nervous system
gptkbp:HGNC_ID 10582
gptkbp:locatedOnChromosome 12q13.13
gptkbp:memberOf gptkb:voltage-gated_sodium_channel_gene_family
gptkbp:mutationAssociatedWith gptkb:early_infantile_epileptic_encephalopathy_13
gptkbp:OMIM 600702
gptkbp:orthologInMouse gptkb:Scn8a
gptkbp:product gptkb:sodium_channel_protein_type_8_subunit_alpha
gptkbp:UniProtID Q9UQD0
gptkbp:bfsParent gptkb:chromosome_12
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label SCN8A