full name
glucosylceramidase beta

synonyms
GBA1, GCB, GLUC, GBA, ENSG00000177628

HGNC
HGNC:4177

Entrez Gene
Gene:2629

ENSEMBL
ENSG00000177628
ENSG00000262446

location
chr: 1
start: 155204239
stop: 155214653
strand: -

OMIM
OMIM:606463: GBA (Autosomal recessive inheritance)
OMIM:608013: Gaucher disease, perinatal lethal
OMIM:230800: Gaucher disease, type I
OMIM:230900: Gaucher disease, type II
OMIM:231000: Gaucher disease, type III
OMIM:231005: Gaucher disease, type IIIC
OMIM:127750: {Lewy body dementia, susceptibility to}
OMIM:168600: {Parkinson disease, late-onset, susceptibility to}

transcripts
NM_001171811.1
NM_001005742.2
NM_001005741.2
NM_000157.3
NM_001171812.1

pathways
Association of TriC/CCT with target proteins during biosynthesis [NCBI:1268699] [REACTOME:R-HSA-390471] [PUBMED:19011634]
Chaperonin-mediated protein folding [NCBI:1268694] [REACTOME:R-HSA-390466] [PUBMED:15519848] [PUBMED:11868281]
Glycosphingolipid metabolism [NCBI:1270099] [REACTOME:R-HSA-1660662] [PUBMED:20919643]
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:12628346] [PUBMED:18635948] [PUBMED:15987739] [PUBMED:2943218] [PUBMED:1883197]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Other glycan degradation [NCBI:82976] [KEGG:hsa00511]
Protein folding [NCBI:1268693] [REACTOME:R-HSA-391251] [PUBMED:18395510] [PUBMED:15459659] [PUBMED:15519848]
Sphingolipid metabolism [NCBI:82994] [KEGG:hsa00600] [NCBI:1270097] [REACTOME:R-HSA-428157] [PUBMED:10652340] [PUBMED:12011104] [PUBMED:10366774] [PUBMED:8457204] [PUBMED:1495423] [PUBMED:18216770] [PUBMED:11305904] [PUBMED:18165232]