The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010].
Sengupta, Badhwar, Upadhyay, Singh, Ganesh: "Malin and laforin are essential components of a protein complex that protects cells from thermal stress." in: Journal of cell science, Vol. 124, Issue Pt 13, pp. 2277-86, (2011) (PubMed).
Aliases for NHLRC1 抗体
NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1) 抗体 NHL repeat containing 1 (Nhlrc1) 抗体 NHL repeat containing E3 ubiquitin protein ligase 1 (Nhlrc1) 抗体 AI505271 抗体 B230309E09Rik 抗体 bA204B7.2 抗体 EPM2A 抗体 EPM2B 抗体 Epm2b 抗体 MALIN 抗体 malin-like 抗体
