Description
Key facts
Detection method:Fluorescent
Product details:
This kit offers an easy to use protocol for detecting levels of lysosomal galactocerebrosidase in many cells types (adherent or non-adherent).
Krabbe Disease is an autosomal recessive disorder that results from a deficiency in an enzyme known as galactocerebrosidase (galactosylceramidase, GALC). It is also called Globoid Cell Leukodystrophy. This name derives from the characteristic pathology of Krabbe Disease, where macrophages accumulate high levels of undegraded galactolipids as a result of the lack of GALC activity. These cells produce a characteristic morphology difference from healthy cells, and are often termed globoid cells. The Lysosomal Galactocerebrosidase Analysis kit offers an easy to use protocol for detecting levels of lysosomal galactocerebrosidase in many cells types (adherent or non-adherent) using a lysate method and a specific lipidic fluorogenic substrate.
This kit is sold by Marker Gene under product code M2774.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Properties and Storage Information:
Shipped at conditions-Blue Ice, Appropriate short-term storage conditions-Multi, Appropriate long-term storage conditions-Multi, Storage information-Please refer to protocols
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
GALC also known as galactocerebrosidase or galactosylceramidase is an enzyme with a molecular mass of about 68 kDa. It functions mechanically by hydrolyzing galactosylceramide (galactocerebroside) into galactose and ceramide. GALC expresses widely in the brain and other nervous tissues particularly in the lysosomes of glial cells contributing to the breakdown of lipids. The efficient lysosomal degradation process performed by GALC is critical for maintaining cellular lipid homeostasis.
Biological function summary
GALC plays an important role in the metabolism of complex lipids. It functions not as part of a larger protein complex but rather as an independent enzyme acting on specific substrates like galactosylceramide. The enzyme's activity contributes to the transformation of lipids necessary for the proper structure and function of myelin in the central nervous system. By maintaining proper lipid levels GALC supports the integrity and stability of myelinated neurons.
Pathways
GALC is involved in the sphingolipid degradation pathway contributing to the catabolic process of sphingolipids. This pathway ensures the break down and recycling of sphingolipid components like ceramide which are essential for cell signaling and membrane integrity. Another relevant pathway is the lysosomal storage pathway where GALC's enzymatic function prevents the abnormal accumulation of galactosylceramide and related substrates. GALC activity has links to other lysosomal enzymes like arylsulfatase A which also participate in lipid metabolism within the lysosome.
GALC mutations and deficiencies lead to Krabbe disease a severe lysosomal storage disorder affecting the nervous system. This pathology results from the accumulation of psychosine a toxic metabolite causing widespread demyelination. Another related condition is globoid cell leukodystrophy associated with GALC dysfunction. Proteins like myelin-associated glycoprotein may interact indirectly with GALC through these disease processes as GALC's enzymatic activity affects myelin maintenance.
