Glucocerebrosidase

Identifiers Symbols GBA; GBA1; GCB; GLUC External IDs OMIM: 606463 MGI: 95665 HomoloGene: 68040 ChEMBL: 2179 GeneCards: GBA Gene EC number 3.2.1.45

Gene Ontology
Molecular function	• glucosylceramidase activity • receptor binding • cation binding
Cellular component	• lysosomal membrane • lysosomal lumen
Biological process	• carbohydrate metabolic process • phospholipid metabolic process • sphingolipid metabolic process • glucosylceramide catabolic process • glycosphingolipid metabolic process • lysosome organization • cell death • termination of signal transduction • negative regulation of interleukin-6 production • positive regulation of protein dephosphorylation • negative regulation of MAP kinase activity • small molecule metabolic process • sphingosine biosynthetic process • ceramide biosynthetic process • negative regulation of inflammatory response • cellular response to tumor necrosis factor
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 2629 14466 Ensembl ENSG00000177628 ENSMUSG00000028048 UniProt P04062 P17439 RefSeq (mRNA) NM_000157.3 NM_001077411.1 RefSeq (protein) NP_000148.2 NP_001070879.1 Location (UCSC) Chr 1:
155.2 – 155.21 Mb Chr 3:
89.2 – 89.21 Mb PubMed search

β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. It is localized in the lysosome and has a molecular weight of 59700 Daltons.