Mouse Anti-GBA Recombinant Antibody (CBLG1-708) (CBMAB-G2352-LY)

Mouse

Rat, Human

CBLG1-708

IgG2a

WB

Rat, Human

IgG2a

Monoclonal

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Liquid

1 mg/mL

> 95% Purity determined by SDS-PAGE.

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

glucosidase, beta; acid (includes glucosylceramidase)

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208, PubMed:15916907).

Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698).

Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011).

Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485).

May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485).

The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208).

Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485).

Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).

Antigen processing and presentation Source: Ensembl
Autophagosome organization Source: Ensembl
Autophagy Source: UniProtKB
Beta-glucoside catabolic process Source: Ensembl
Brain morphogenesis Source: Ensembl
Cell maturation Source: Ensembl
Cellular response to starvation Source: Ensembl
Cellular response to tumor necrosis factor Source: BHF-UCL
Ceramide biosynthetic process Source: BHF-UCL
Cerebellar Purkinje cell layer formation Source: Ensembl
Cholesterol metabolic process Source: UniProtKB
Determination of adult lifespan Source: Ensembl
Glucosylceramide catabolic process Source: UniProtKB
Hematopoietic stem cell proliferation Source: Ensembl
Homeostasis of number of cells Source: Ensembl
Lipid glycosylation Source: UniProtKB
Lipid storage Source: Ensembl
Lymphocyte migration Source: Ensembl
Lysosome organization Source: UniProtKB
Microglia differentiation Source: Ensembl
Microglial cell proliferation Source: Ensembl
Motor behavior Source: Ensembl
Negative regulation of inflammatory response Source: BHF-UCL
Negative regulation of interleukin-6 production Source: BHF-UCL
Negative regulation of MAP kinase activity Source: BHF-UCL
Negative regulation of neuron apoptotic process Source: Ensembl
Negative regulation of neuron death Source: ParkinsonsUK-UCL
Negative regulation of protein-containing complex assembly Source: ParkinsonsUK-UCL
Neuromuscular process Source: Ensembl
Neuron apoptotic process Source: Ensembl
Positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization Source: Ensembl
Positive regulation of neuronal action potential Source: ParkinsonsUK-UCL
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
Positive regulation of protein-containing complex disassembly Source: ParkinsonsUK-UCL
Positive regulation of protein dephosphorylation Source: BHF-UCL
Positive regulation of protein lipidation Source: ParkinsonsUK-UCL
Positive regulation of protein metabolic process Source: ParkinsonsUK-UCL
Positive regulation of proteolysis involved in cellular protein catabolic process Source: ParkinsonsUK-UCL
Proteasome-mediated ubiquitin-dependent protein catabolic process Source: Ensembl
Pyramidal neuron differentiation Source: Ensembl
Regulation of cellular protein metabolic process Source: ParkinsonsUK-UCL
Regulation of lysosomal protein catabolic process Source: ParkinsonsUK-UCL
Regulation of macroautophagy Source: ParkinsonsUK-UCL
Regulation of TOR signaling Source: UniProtKB
Regulation of water loss via skin Source: Ensembl
Respiratory electron transport chain Source: Ensembl
Response to dexamethasone Source: Ensembl
Response to estrogen Source: Ensembl
Response to pH Source: Ensembl
Response to testosterone Source: Ensembl
Response to thyroid hormone Source: Ensembl
Skin morphogenesis Source: Ensembl
Sphingosine biosynthetic process Source: BHF-UCL
T cell differentiation in thymus Source: Ensembl
Termination of signal transduction Source: BHF-UCL

Lysosome membrane. Interaction with saposin-C promotes membrane association (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370).

Gaucher disease (GD):
A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
Gaucher disease 1 (GD1):
A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Gaucher disease 2 (GD2):
The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.
Gaucher disease 3 (GD3):
A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.
Gaucher disease 3C (GD3C):
A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.
Gaucher disease perinatal lethal (GDPL):
The disease is caused by variants affecting the gene represented in this entry. Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
Parkinson disease (PARK):
A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.