CSTB gene

URI: https://gptkb.org/entity/CSTB_gene
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:EPM1
gptkb:Stefin_B
gptkbp:associatedWith gptkb:Unverricht-Lundborg_disease
gptkb:progressive_myoclonic_epilepsy_type_1
gptkbp:encodes gptkb:cystatin_B_protein
gptkbp:Entrez_Gene_ID 1471
ENSG00000160213
gptkbp:expressedIn gptkb:skeletal_muscle
gptkb:kidney
brain
liver
gptkbp:function gptkb:protease_inhibitor
gptkbp:HGNC_ID HGNC:2476
gptkbp:locatedOnChromosome chromosome 21
gptkbp:mutationAssociatedWith epilepsy
gptkbp:OMIM 601145
gptkbp:organism gptkb:Homo_sapiens
gptkbp:proteinFamily gptkb:cystatin_superfamily
gptkbp:UniProtID P04080
gptkbp:bfsParent gptkb:Lundborg_disease
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label CSTB gene