Anti-EPM2A/Laforin antibody

Supplementary info

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

Activity summary

Laforin also known as EPM2A is a dual-specificity phosphatase. It weighs approximately 37 kDa and plays a role in dephosphorylating glycogen. This target is mostly expressed in the brain liver and muscle tissues. Laforin possesses a unique carbohydrate-binding module distinguishing it from other phosphatases. The protein exists mostly as a cytoplasmic enzyme but can translocate to different cell compartments depending on functional requirements.

Biological function summary

Laforin acts to maintain glycogen structure and solubility. It plays a role in a complex with malin (NHLRC1) which helps ubiquitinate and degrade other proteins. This interaction becomes critical for preventing abnormal glycogen accumulation. Malin-laforin complex regulates autophagy by modulating protein turnover especially under metabolic stress conditions. Cooperation with other proteins is important for laforin's activity in glycogen metabolism.

Pathways

Laforin is essential in glycogen metabolism and autophagy pathways. It interacts with other proteins such as malin (NHLRC1) and glycogen synthase. In glycogen metabolism laforin dephosphorylation activity prevents glycogen from becoming insoluble. Autophagy pathways involve the laforin-malin complex removing potentially harmful proteins. Its role in these pathways ensures cellular energy balance and prevents toxic protein aggregation.

Associated diseases and disorders

Mutations in laforin lead to Lafora Disease a progressive myoclonus epilepsy. Dysfunctional laforin activity causes harmful glycogen-like inclusions called Lafora bodies which mostly affect neurons. Associated proteins like malin (NHLRC1) also show dysfunction in Lafora Disease. Understanding laforin’s function and interaction is key in therapeutic approaches to treating such disorders.