Anti-GALC antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

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.

Associated diseases and disorders

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.