Aliases for NHLRC1 Gene
External Ids for NHLRC1 Gene
Previous GeneCards Identifiers for NHLRC1 Gene
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]
GeneCards Summary for NHLRC1 Gene
NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with NHLRC1 include epilepsy, progressive myoclonic 2b and progressive myoclonus epilepsy, lafora type. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.
UniProtKB/Swiss-Prot for NHLRC1 Gene
E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.