GBA gene

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

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:GBA1 gptkb:acid_beta-glucosidase gptkb:glucosylceramidase_beta
gptkbp:associatedWith	gptkb:Parkinson's_disease gptkb:Gaucher_disease gptkb:GBAP1
gptkbp:chromosomeArm	1q21
gptkbp:clinicalTrialPhase	yes
gptkbp:discoveredBy	gptkb:Brady_et_al.
gptkbp:discoveredIn	1965
gptkbp:encodes	gptkb:glucocerebrosidase
gptkbp:Entrez_Gene_ID	2629 ENSG00000177628
gptkbp:expressedIn	brain liver spleen
gptkbp:function	hydrolyzes glucocerebroside to glucose and ceramide
gptkbp:geneType	protein-coding
gptkbp:hasPseudogene	gptkb:GBAP1
gptkbp:HGNC_ID	HGNC:4177
gptkbp:inheritance	autosomal recessive
gptkbp:length	11 exons 536 amino acids
gptkbp:locatedOnChromosome	1 chr1:155,204,238-155,214,663 (GRCh38)
gptkbp:mutationAssociatedWith	gptkb:lysosomal_storage_disorder nonsense missense frameshift splice site
gptkbp:OMIM	606463
gptkbp:orthologInMouse	gptkb:Gba
gptkbp:orthologInZebrafish	gba1
gptkbp:product	gptkb:beta-glucocerebrosidase
gptkbp:proteinFamily	gptkb:glycoside_hydrolase_family_30
gptkbp:referenceGenome	gptkb:GRCh38
gptkbp:subcellularLocation	gptkb:lysosome
gptkbp:UniProtID	P04062
gptkbp:bfsParent	gptkb:Type_2_Gaucher's_disease
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	GBA gene