The enzyme glucocerebrosidase/GCase (encoded by the GBA1 gene) is essential for the hydrolysis of glucocerebroside, a lipid substrate within lysosomes. This enzymatic function is critical for maintaining cellular lipid metabolism and lysosomal integrity. Mutations in the GBA1 gene can result in diminished or defective glucocerebrosidase activity, leading to the intracellular accumulation of glucocerebroside. This accumulation is the primary etiological factor in Gaucher disease, a lysosomal storage disorder manifesting with hepatosplenomegaly, skeletal abnormalities, and neurological complications. Furthermore, GBA1 mutations are recognized as significant genetic risk factors for Parkinson's disease, as they compromise lysosomal function and disrupt cellular homeostasis, thereby contributing to neurodegenerative processes. This LysoFix-GBA (Lysosomal GCase Probe Yellow) probe, a cell-permeable reporter for GCase activity, fluoresces upon glucocerebrosidase activation, facilitating the detection and monitoring of GBA1 activity. This is pivotal for the diagnosis and management of related diseases, enabling early diagnosis, elucidation of disease progression, and the development of targeted therapies. Thus, comprehending the function and activity of GBA1 is imperative for advancing therapeutic strategies and improving disease management for these conditions. Additionally, a correlation between GCase activity in iPSC-derived neurons and monocytes suggests that patient blood samples may serve as a surrogate for GCase activity in patient neurons.

PRODUCT DETAILS

Clone: None

Antibody Type: None

Reactivity: Human

Format: None

Host: None

Isotype: None

Applications: ICC, Live cell imaging, FC - Verified

Regulatory Status: RUO

Data Sheets: TDS | SDS

Note to Purchaser: This product is manufactured and supplied by BioLegend, Inc. under an agreement between BioLegend, Inc. and Cytek Biosciences, Inc. Information related to this product is provided by BioLegend, Inc.