|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GBA gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
11 exons
536 amino acids
|
|
gptkbp:locatedOnChromosome
|
1
chr1:155,204,238-155,214,663 (GRCh38)
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
lysosomal storage disorder
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
|
6
|