Rabbit anti-Human NHLRC1 Polyclonal Antibody

Uniprot Id

Q6VVB1

Target Species

Human

Target Name

NHLRC1

Target Full Name

E3 ubiquitin-protein ligase NHLRC1

Target Function

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.

Target Involvement

Epilepsy, progressive myoclonic 2 (EPM2)

Target Subcellular Location

Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.

Target Tissue Specificity

Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.

Target Synonyms

bA204B7.2; E3 ubiquitin-protein ligase NHLRC1; EPM2A; EPM2B; EPM2B gene; Malin; MGC119262; MGC119264; MGC119265; NHL repeat containing 1; NHL repeat containing E3 ubiquitin protein ligase 1; NHL repeat containing protein 1; NHL repeat-containing protein 1; NHL repeat-containing protein 1 gene; NHLC1_HUMAN; NHLRC 1; Nhlrc1

Target Background

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).