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]
