The protein encoded by this gene is a single subunit E3nubiquitin ligase. Laforin is polyubiquitinated by the encodednprotein. Defects in this intronless gene lead to an accumulation ofnlaforin and onset of Lafora disease, also known as progressivenmyoclonic epilepsy type 2 (EPM2).
应用类型
WB
免疫原
This NHLRC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 149-179 amino acids from the Central region of human NHLRC1.
