Entity Details

Primary name GBA2
Entity type gene
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Details

PrimaryID57704
RefseqGeneNG_033899
SymbolGBA2
Nameglucosylceramidase beta 2
Chromosome9
Location9p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGBA2_HUMAN

GO terms

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GOName
GO:0004348 glucosylceramidase activity
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005975 carbohydrate metabolic process
GO:0006680 glucosylceramide catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0007417 central nervous system development
GO:0008203 cholesterol metabolic process
GO:0008206 bile acid metabolic process
GO:0008422 beta-glucosidase activity
GO:0016021 integral component of membrane
GO:0016139 glycoside catabolic process
GO:0019898 extrinsic component of membrane
GO:0021954 central nervous system neuron development
GO:0030259 lipid glycosylation
GO:0030833 regulation of actin filament polymerization
GO:0031113 regulation of microtubule polymerization
GO:0042406 extrinsic component of endoplasmic reticulum membrane
GO:0046527 glucosyltransferase activity
GO:0050295 steryl-beta-glucosidase activity
GO:0090498 extrinsic component of Golgi membrane
GO:0097035 regulation of membrane lipid distribution

Diseases

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Disease IDSourceNameDescription
614409 OMIMSpastic paraplegia 46, autosomal recessive (SPG46)A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. The disease is caused by variants affecting the gene represented in this entry.