Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
beta-glucosidase 2
non-lysosomal glucosylceramidase |
| gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
spastic paraplegia type 46 |
| gptkbp:discoveredIn |
2001
|
| gptkbp:encodes |
glucosylceramidase beta 2
|
| gptkbp:Entrez_Gene_ID |
57704
ENSG00000107331 |
| gptkbp:expressedIn |
gptkb:testis
brain liver |
| gptkbp:function |
catalyzes hydrolysis of glucosylceramide
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:4136
|
| https://www.w3.org/2000/01/rdf-schema#label |
GBA2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9p13.3 |
| gptkbp:mutationAssociatedWith |
neurological disorders
|
| gptkbp:OMIM |
609471
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Gba2
|
| gptkbp:product |
GBA2 protein
|
| gptkbp:relatedTo |
lipid metabolism
|
| gptkbp:UniProtID |
gptkb:Q9HCG7
|
| gptkbp:bfsParent |
gptkb:Glucocerebrosidase-like_protein_D
|
| gptkbp:bfsLayer |
8
|